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124 relations: Adolph Strümpell, Aldehyde dehydrogenase 18 family, member A1, Allan–Herndon–Dudley syndrome, AMP deaminase 2, Amyotrophy, Anita Harding, Antidepressant, AP4B1, AP4E1, AP4M1, AP4S1, ARL6IP1, Ataxia, Atlastin, ATP13A2, Axon, B4GALNT1, Baclofen, Botulinum toxin, BSCL2, CAPN1, Carnitine palmitoyltransferase I, CCT5 (gene), Cerebral palsy, Clonazepam, Corpus callosum, CYP2U1, CYP7B1, Dementia, Demyelinating disease, Diazepam, Differential diagnosis, Dominance (genetics), ENTPD1, Epilepsy, ERLIN1, ERLIN2, FA2H, FARS2, GBA2, Genetic testing, GJC2, Gracile fasciculus, Granulin, Hamstring, Hearing loss, Hereditary sensory and autonomic neuropathy, Hereditary spastic paraplegia, Heredity, HSP60, ..., Ichthyosis, Iliopsoas, Intellectual disability, Jaw jerk reflex, KCNA2, KIAA0196, KIF1A, KIF1C, KIF5A, KLC2, Kufor–Rakeb syndrome, L1 (protein), Leukodystrophy, Life expectancy, Locus (genetics), Magnetic resonance imaging, MARS (gene), MASA syndrome, Monocarboxylate transporter 8, Motor neuron, Multiple sclerosis, Mutation, Myelin-associated glycoprotein, National Institutes of Health, Neurogenic bladder dysfunction, Neuropathy target esterase, NIPA1, Norway, Online Mendelian Inheritance in Man, Orthopedic surgery, Oxybutynin, Pallesthesia, Paraplegin, Paresthesia, Pelizaeus–Merzbacher disease, Peripheral neuropathy, PGAP1, Physical therapy, PLA2G6, Proteolipid protein 1, Pyramidal tracts, RAB3GAP2, REEP1, REEP2, Rhizotomy, RIPK5, RNA polymerase III, RTN2, SERAC1, SLC33A1, Spasm, Spastic cerebral palsy, Spastic diplegia, Spasticity, Spastin, SPG11, SPG20, SPG21, Spinal cord, Spinocerebellar tract, TFG (gene), Tibialis anterior muscle, Tizanidine, Tolterodine, Ubiquitin carboxy-terminal hydrolase L1, United States, Upper motor neuron, USP8, VPS37A, White matter, X-linked recessive inheritance, ZFR, ZFYVE26, ZFYVE27. Expand index (74 more) »
Adolph Strümpell
Ernst Adolf Gustav Gottfried von Strümpell (29 June 1853 – 10 January 1925) was a Baltic German neurologist.
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Aldehyde dehydrogenase 18 family, member A1
Delta-1-pyrroline-5-carboxylate synthetase (P5CS) is an enzyme that in humans is encoded by the ALDH18A1 gene.
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Allan–Herndon–Dudley syndrome
Allan–Herndon–Dudley syndrome is a rare X-linked inherited disorder of brain development that causes both moderate to severe intellectual disability and problems with speech and movement.
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AMP deaminase 2
AMP deaminase 2 is an enzyme that in humans is encoded by the AMPD2 gene.
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Amyotrophy
Amyotrophy is progressive wasting of muscle tissues.
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Anita Harding
Anita Elizabeth Harding (17 September 1952 – 11 September 1995) was an Irish-British neurologist, and Professor of Clinical Neurology at the Institute of Neurology of the University of London.
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Antidepressant
Antidepressants are drugs used for the treatment of major depressive disorder and other conditions, including dysthymia, anxiety disorders, obsessive–compulsive disorder, eating disorders, chronic pain, neuropathic pain and, in some cases, dysmenorrhoea, snoring, migraine, attention-deficit hyperactivity disorder (ADHD), addiction, dependence, and sleep disorders.
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AP4B1
AP-4 complex subunit beta-1 is a protein that in humans is encoded by the AP4B1 gene.
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AP4E1
AP-4 complex subunit epsilon-1 is a protein that in humans is encoded by the AP4E1 gene.
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AP4M1
AP-4 complex subunit mu-1 is a protein that in humans is encoded by the AP4M1 gene.
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AP4S1
AP-4 complex subunit sigma-1 is a protein that in humans is encoded by the AP4S1 gene.
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ARL6IP1
ADP-ribosylation factor-like protein 6-interacting protein 1 is a protein that in humans is encoded by the ARL6IP1 gene.
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Ataxia
Ataxia is a neurological sign consisting of lack of voluntary coordination of muscle movements that includes gait abnormality.
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Atlastin
Atlastin, or Atlastin-1, is a protein that in humans is encoded by the ATL1 gene.
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ATP13A2
Probable cation-transporting ATPase 13A2 is an enzyme that in humans is encoded by the ATP13A2 gene that is involved in the transport of divalent transition metal cations.
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Axon
An axon (from Greek ἄξων áxōn, axis) or nerve fiber, is a long, slender projection of a nerve cell, or neuron, that typically conducts electrical impulses known as action potentials, away from the nerve cell body.
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B4GALNT1
Beta-1,4 N-acetylgalactosaminyltransferase 1 is an enzyme that in humans is encoded by the B4GALNT1 gene.
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Baclofen
Baclofen, sold under the brand name Lioresal among others, is a medication used to treat spasticity.
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Botulinum toxin
Botulinum toxin (BTX) or Botox is a neurotoxic protein produced by the bacterium Clostridium botulinum and related species.
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BSCL2
Seipin is a protein that in humans is encoded by the BSCL2 gene.
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CAPN1
Calpain-1 catalytic subunit is a protein that in humans is encoded by the CAPN1 gene.
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Carnitine palmitoyltransferase I
Carnitine palmitoyltransferase I (CPT1) also known as carnitine acyltransferase I, CPTI, CAT1, CoA:carnitine acyl transferase (CCAT), or palmitoylCoA transferase I, is a mitochondrial enzyme responsible for the formation of acyl carnitines by catalyzing the transfer of the acyl group of a long-chain fatty acyl-CoA from coenzyme A to l-carnitine.
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CCT5 (gene)
T-complex protein 1 subunit epsilon is a protein that in humans is encoded by the CCT5 gene.
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Cerebral palsy
Cerebral palsy (CP) is a group of permanent movement disorders that appear in early childhood.
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Clonazepam
Clonazepam, sold under the brand name Klonopin among others, is a medication used to prevent and treat seizures, panic disorder, and for the movement disorder known as akathisia.
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Corpus callosum
The corpus callosum (Latin for "tough body"), also callosal commissure, is a wide commissure, a flat bundle of commissural fibers, about 10 cm long beneath the cerebral cortex in the brains of placental mammals.
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CYP2U1
CYP2U1 (cytochrome P450, family 2, subfamily U, polypeptide 1) is a protein that in humans is encoded by the CYP2U1 gene.
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CYP7B1
25-hydroxycholesterol 7-alpha-hydroxylase also known as oxysterol and steroid 7-alpha-hydroxylase is an enzyme that in humans is encoded by the CYP7B1 gene.
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Dementia
Dementia is a broad category of brain diseases that cause a long-term and often gradual decrease in the ability to think and remember that is great enough to affect a person's daily functioning.
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Demyelinating disease
A demyelinating disease is any disease of the nervous system in which the myelin sheath of neurons is damaged.
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Diazepam
Diazepam, first marketed as Valium, is a medicine of the benzodiazepine family that typically produces a calming effect.
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Differential diagnosis
In medicine, a differential diagnosis is the distinguishing of a particular disease or condition from others that present similar clinical features.
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Dominance (genetics)
Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.
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ENTPD1
Ectonucleoside triphosphate diphosphohydrolase-1 (gene: ENTPD1; protein: NTPDase1) also known as CD39 (Cluster of Differentiation 39), is a typical cell surface-located enzymes with an extracellularly facing catalytic site.
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Epilepsy
Epilepsy is a group of neurological disorders characterized by epileptic seizures.
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ERLIN1
Erlin-1 is a protein that in humans is encoded by the ERLIN1 gene.
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ERLIN2
Erlin-2 is a protein that in humans is encoded by the ERLIN2 gene.
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FA2H
Fatty acid 2-hydroxylase is a protein that in humans is encoded by the FA2H gene.
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FARS2
Phenylalanyl-tRNA synthetase, mitochondrial is an enzyme that in humans is encoded by the FARS2 gene.
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GBA2
GBA2 is the gene that encodes the enzyme non-lysosomal glucosylceramidase in humans.
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Genetic testing
Genetic testing, also known as DNA testing, allows the determination of bloodlines and the genetic diagnosis of vulnerabilities to inherited diseases.
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GJC2
Gap junction gamma-2 (GJC2), also known as connexin-46.6 (Cx46.6) and connexin-47 (Cx47) and gap junction alpha-12 (GJA12), is a protein that in humans is encoded by the GJC2 gene.
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Gracile fasciculus
The gracile fasciculus (fasciculus gracilis, tract of Goll or gracile tract) is a tract, a bundle of nerve fibers in the dorsal column-medial lemniscus pathway of the spinal cord and carries information from the lower parts of the body.
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Granulin
Granulin is a protein that in humans is encoded by the GRN gene.
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Hamstring
In human anatomy, a hamstring is one of the three posterior thigh muscles in between the hip and the knee (from medial to lateral: semimembranosus, semitendinosus and biceps femoris).
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Hearing loss
Hearing loss, also known as hearing impairment, is a partial or total inability to hear.
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Hereditary sensory and autonomic neuropathy
Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy (HSN) is a condition used to describe any of the types of this disease which inhibit sensation.
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Hereditary spastic paraplegia
Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder.
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Heredity
Heredity is the passing on of traits from parents to their offspring, either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic information of their parents.
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HSP60
Heat shock proteins are generally responsible for preventing damage to proteins in response to high levels of heat.
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Ichthyosis
Ichthyosis is a family of rare genetic skin disorders characterized by dry, thickened, scaly skin.
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Iliopsoas
The iliopsoas refers to the joined psoas and the iliacus muscles.
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Intellectual disability
Intellectual disability (ID), also known as general learning disability, and mental retardation (MR), is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning.
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Jaw jerk reflex
The jaw jerk reflex or the masseter reflex is a stretch reflex used to test the status of a patient's trigeminal nerve (cranial nerve V) and to help distinguish an upper cervical cord compression from lesions that are above the foramen magnum.
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KCNA2
Potassium voltage-gated channel subfamily A member 2 also known as Kv1.2 is a protein that in humans is encoded by the KCNA2 gene.
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KIAA0196
KIAA0196 (also known as strumpellin) is a human gene.
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KIF1A
Kinesin-like protein KIF1A, also known as axonal transporter of synaptic vesicles or microtubule-based motor KIF1A, is a protein that in humans is encoded by the KIF1A gene.
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KIF1C
Kinesin-like protein KIF1C is a protein that in humans is encoded by the KIF1C gene.
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KIF5A
Kinesin heavy chain isoform 5A is a protein that in humans is encoded by the KIF5A gene.
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KLC2
Kinesin light chain 2 is a protein that in humans is encoded by the KLC2 gene.
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Kufor–Rakeb syndrome
Kufor–Rakeb syndrome is an autosomal recessive disorder of juvenile onset also known as Parkinson disease-9 (PARK9).
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L1 (protein)
L1, also known as L1CAM, is a transmembrane protein member of the L1 protein family, encoded by the L1CAM gene.
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Leukodystrophy
Leukodystrophy is one of a group of disorders characterized by degeneration of the white matter in the brain.
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Life expectancy
Life expectancy is a statistical measure of the average time an organism is expected to live, based on the year of its birth, its current age and other demographic factors including gender.
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Locus (genetics)
A locus (plural loci) in genetics is a fixed position on a chromosome, like the position of a gene or a marker (genetic marker).
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Magnetic resonance imaging
Magnetic resonance imaging (MRI) is a medical imaging technique used in radiology to form pictures of the anatomy and the physiological processes of the body in both health and disease.
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MARS (gene)
Methionyl-tRNA synthetase, cytoplasmic is an enzyme that in humans is encoded by the MARS gene.
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MASA syndrome
MASA syndrome, also called CRASH syndrome, Gareis-Mason syndrome, L1 syndrome, spastic paraplegia 1 is a rare X-linked recessive neurological disorder.
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Monocarboxylate transporter 8
Monocarboxylate transporter 8 (MCT8) is an active transporter protein that in humans is encoded by the SLC16A2 gene.
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Motor neuron
A motor neuron (or motoneuron) is a neuron whose cell body is located in the motor cortex, brainstem or the spinal cord, and whose axon (fiber) projects to the spinal cord or outside of the spinal cord to directly or indirectly control effector organs, mainly muscles and glands.
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Multiple sclerosis
Multiple sclerosis (MS) is a demyelinating disease in which the insulating covers of nerve cells in the brain and spinal cord are damaged.
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Mutation
In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.
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Myelin-associated glycoprotein
Myelin-associated glycoprotein (MAG, Siglec-4) is a cell membrane glycoprotein that is a member of the SIGLEC family of proteins and is a functional ligand of the NoGo-66 receptor, (NgR).
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National Institutes of Health
The National Institutes of Health (NIH) is the primary agency of the United States government responsible for biomedical and public health research, founded in the late 1870s.
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Neurogenic bladder dysfunction
Neurogenic bladder dysfunction, sometimes simply referred to as neurogenic bladder, is a dysfunction of the urinary bladder due to disease of the central nervous system or peripheral nerves involved in the control of micturition (urination).
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Neuropathy target esterase
Neuropathy target esterase also known as patatin-like phospholipase domain-containing protein 6 (PNPLA6) is a neuropathy target esterase enzyme that in humans is encoded by the PNPLA6 gene.
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NIPA1
Non-imprinted in Prader-Willi/Angelman syndrome region protein 1 is a protein that in humans is encoded by the NIPA1 gene.
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Norway
Norway (Norwegian: (Bokmål) or (Nynorsk); Norga), officially the Kingdom of Norway, is a unitary sovereign state whose territory comprises the western portion of the Scandinavian Peninsula plus the remote island of Jan Mayen and the archipelago of Svalbard.
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Online Mendelian Inheritance in Man
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship.
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Orthopedic surgery
Orthopedic surgery or orthopedics, also spelled orthopaedic, is the branch of surgery concerned with conditions involving the musculoskeletal system.
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Oxybutynin
Oxybutynin (brand names Ditropan, Lyrinel XL, Lenditro (ZA), Driptane (RU), Uripan (Middle East)) is an anticholinergic medication used to relieve urinary and bladder difficulties, including frequent urination and inability to control urination (urge incontinence), by decreasing muscle spasms of the bladder.
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Pallesthesia
Pallesthesia (\ˌpal-es-ˈthē-zh(ē-)ə\), or vibratory sensation, is the ability to perceive vibration.
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Paraplegin
Paraplegin is a protein that in humans is encoded by the SPG7 gene located on chromosome 16.
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Paresthesia
Paresthesia is an abnormal sensation such as tingling, tickling, pricking, numbness or burning of a person's skin with no apparent physical cause.
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Pelizaeus–Merzbacher disease
Pelizaeus–Merzbacher disease is a rare central nervous system disorder in which coordination, motor abilities, and intellectual function are delayed to variable extents.
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Peripheral neuropathy
Peripheral neuropathy (PN) is damage to or disease affecting nerves, which may impair sensation, movement, gland or organ function, or other aspects of health, depending on the type of nerve affected.
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PGAP1
Post-GPI attachment to proteins 1 is a protein that in humans is encoded by the PGAP1 gene.
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Physical therapy
Physical therapy (PT), also known as physiotherapy, is one of the allied health professions that, by using mechanical force and movements (bio-mechanics or kinesiology), manual therapy, exercise therapy, and electrotherapy, remediates impairments and promotes mobility and function.
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PLA2G6
85 kDa calcium-independent phospholipase A2 is an enzyme that in humans is encoded by the PLA2G6 gene.
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Proteolipid protein 1
Proteolipid protein 1 (PLP1) is a form of myelin proteolipid protein (PLP).
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Pyramidal tracts
The pyramidal tracts include both the corticobulbar tract and the corticospinal tract.
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RAB3GAP2
Rab3 GTPase-activating protein non-catalytic subunit is an enzyme that in humans is encoded by the RAB3GAP2 gene.
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REEP1
Receptor expression-enhancing protein 1 is a protein that in humans is encoded by the REEP1 gene.
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REEP2
Receptor expression-enhancing protein 2 is a protein that in humans is encoded by the REEP2 gene.
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Rhizotomy
A Selective Dorsal Rhizotomy (SDR), also known as a Rhizotomy, Dorsal Rhizotomy, or a Selective Posterior Rhizotomy, is a neurosurgical procedure that selectively destroys problematic nerve roots in the spinal cord.
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RIPK5
Dual serine/threonine and tyrosine protein kinase is an enzyme that in humans is encoded by the DSTYK gene.
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RNA polymerase III
In eukaryote cells, RNA polymerase III (also called Pol III) transcribes DNA to synthesize ribosomal 5S rRNA, tRNA and other small RNAs.
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RTN2
Reticulon-2 is a protein that in humans is encoded by the RTN2 gene.
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SERAC1
Serine active site containing 1 is a protein in humans that is encoded by the SERAC1 gene.
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SLC33A1
Acetyl-coenzyme A transporter 1 also known as solute carrier family 33 member 1 (SLC33A1) is a protein that in humans is encoded by the SLC33A1 gene.
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Spasm
A spasm is a sudden involuntary contraction of a muscle, a group of muscles, or a hollow organ such as the heart.
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Spastic cerebral palsy
Spastic cerebral palsy is the type of cerebral palsy wherein spasticity is the exclusive impairment present.
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Spastic diplegia
Spastic diplegia, historically known as Little's Disease, is a form of cerebral palsy (CP) that is a chronic neuromuscular condition of hypertonia and spasticity—manifested as an especially high and constant "tightness" or "stiffness"—in the muscles of the lower extremities of the human body, usually those of the legs, hips and pelvis.
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Spasticity
Spasticity is a feature of altered skeletal muscle performance with a combination of paralysis, increased tendon reflex activity, and hypertonia.
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Spastin
The human gene SPAST codes for the microtubule-severing protein of the same name, commonly known as spastin.
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SPG11
Spatacsin is a protein that in humans is encoded by the SPG11 gene.
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SPG20
Spartin is a protein that in humans is encoded by the SPG20 gene.
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SPG21
Maspardin is a protein that in humans is encoded by the SPG21 gene.
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Spinal cord
The spinal cord is a long, thin, tubular bundle of nervous tissue and support cells that extends from the medulla oblongata in the brainstem to the lumbar region of the vertebral column.
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Spinocerebellar tract
The spinocerebellar tract is a nerve tract originating in the spinal cord and terminating in the same side (ipsilateral) of the cerebellum.
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TFG (gene)
Protein TFG is a protein that in humans is encoded by the TFG gene.
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Tibialis anterior muscle
The tibialis anterior is a muscle in humans that originates in the upper two-thirds of the lateral (outside) surface of the tibia and inserts into the medial cuneiform and first metatarsal bones of the foot.
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Tizanidine
Tizanidine (trade names Zanaflex (Acorda Therapeutics), Sirdalud (Novartis), Relentus (Beximco Pharma) Is a centrally acting α2 adrenergic agonist used as a muscle relaxant. It is used to treat the spasms, cramping, and tightness of muscles caused by medical problems such as multiple sclerosis, ALS, spastic diplegia, back pain, or certain other injuries to the spine or central nervous system. It is also prescribed off-label for migraine headaches, as a sleep aid, and as an anticonvulsant. It is also prescribed for some symptoms of fibromyalgia. Tizanidine has been found to be as effective as other antispasmodic drugs and is more tolerable than baclofen and diazepam. Tizanidine can be very strong even at the 2 mg dose and may cause hypotension, so caution is advised when it is used in patients who have a history of orthostatic hypotension, or when switching from gel cap to tablet form and vice versa. Tizanidine can occasionally cause acute liver failure. Clinical trials show that up to 5% of patients treated with tizanidine had elevated liver function test values, though symptoms disappeared upon withdrawal of the drug. Care should be used when first beginning treatment with tizanidine with regular liver tests for the first six months of treatment. As of 2015 the cost for a typical month of medication in the United States is US$100200.
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Tolterodine
Tolterodine (trade names Detrol, Detrusitol) is an antimuscarinic drug that is used for symptomatic treatment of urinary incontinence.
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Ubiquitin carboxy-terminal hydrolase L1
Ubiquitin carboxy-terminal hydrolase L1 (ubiquitin C-terminal hydrolase, UCH-L1) is a deubiquitinating enzyme.
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United States
The United States of America (USA), commonly known as the United States (U.S.) or America, is a federal republic composed of 50 states, a federal district, five major self-governing territories, and various possessions.
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Upper motor neuron
Upper motor neurons (UMNs) are the main source of voluntary movement.
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USP8
Ubiquitin carboxyl-terminal hydrolase 8 is an enzyme that in humans is encoded by the USP8 gene.
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VPS37A
Vacuolar protein sorting 37 homolog A (S. cerevisiae) is a protein in humans that is encoded by the VPS37A gene.
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White matter
White matter refers to areas of the central nervous system (CNS) that are mainly made up of myelinated axons, also called tracts.
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X-linked recessive inheritance
X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed in males (who are necessarily hemizygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation, see zygosity.
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ZFR
Zinc finger RNA binding protein is a protein in humans that is encoded by the ZFR gene.
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ZFYVE26
Zinc finger, FYVE domain containing 26 is a protein that in humans is encoded by the ZFYVE26 gene.
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ZFYVE27
Zinc finger, FYVE domain containing 27 is a protein that in humans is encoded by the ZFYVE27 gene.
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Redirects here:
Familial spastic paralysis, Familial spastic paraparesis, Familial spastic paraplegia, Hereditary Spastic Paraplegia, Kjellin syndrome, Lison syndrome, SPG15, Silver syndrome, Spastic ataxia, Spastic paraplegia, Spastic paraplegia 15, Spastic paraplegia type 1, X-linked, Spastic paraplegia type 2, X-linked, Spastic paraplegia type 3, dominant, Spastic paraplegia type 4, dominant, Spastic paraplegia type 5A, recessive, Spastic paraplegia type 5B, recessive, Spastic paraplegia type 6, dominant, Spastic paraplegia, familial, Spastic paraplegia, hereditary, Struempell-Lorrain disease, Strumpell disease, Strumpell-Lorrain disease, Strumpell-lorrain disease, Strumpell–Lorrain disease, Strümpell-Lorrain disease, Troyer syndrome.
References
[1] https://en.wikipedia.org/wiki/Hereditary_spastic_paraplegia
