Neudle.com: "cerebellar ataxia hereditary"

Differential
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abdominal distention

abdominal reflex, absent

abducens nerve paralysis

acanthocytosis

acetazolamide

acetylcholine

achilles tendon, enlarged

acoustic nerve

acoustic neurinoma, bilateral

acquired immunodeficiency syndrome

acquired immunodeficiency syndrome myelopathy

acromicria

Addison's disease

adrenoleukodystrophy

adrenoleukodystrophy, carrier

adrenomyeloneuropathy

adult-onset leukodystrophy, with neuroaxonal spheroids

advances in neurology

adverse drug reaction

alcohol, neurologic complications with

alcoholism

Alexanders disease

Alexanders disease, adult onset

altered states of consciousness

alternating hemiplegia

alternating hemiplegia of childhood

alternating rapid movement

alternating rapid movement, impaired

amyotrophic lateral sclerosis

antibodies to voltage-gated calcium channels

anticholinesterase

anticonvulsants

anticonvulsants, effectiveness

apnea, primary central

apraxia

apraxia of eye movements

areflexia

Arnold Chiari malformation

ataxia telangiectasia

ataxic-dystonia syndromes

ataxin

ataxin-2

atherosclerosis, premature

attention deficit disorder with hyperactivity

attention span

atypical

auditory evoked brainstem potentials

autism

autonomic dysfunction

autosomal dominant leukodystrophy

autosomal rcessive spastic ataxia of Charlevoix-Saguenay

basal ganglia, calcification of

basal ganglia, degeneration

basal ganglia, lesion of

basal ganglia, lesion, bilateral

Bassen-Kornzweig syndrome

biotinidase deficiency

bladder dysfunction

blindness

blood dyscrasias, neurologic findings with

brainstem, neoplasms of

calcification, intracranial

calcium channel dysfunction

cane

carcinoembryonic antigen

CAT scan, emission, abnormal

catalepsy

cataplexy

cataracts

cataracts, congenital

caudate nucleus, lesion of, bilateral

celiac disease, adult

central core disease

cerebellar ataxia, autosomal recessive

cerebellar ataxia, children

cerebellar ataxia, children, differential diagnosis of

cerebellar ataxia, hereditary

cerebellar ataxia, neuropathy and vestibular areflexia syndrome

cerebellar ataxia, primary

cerebellar atrophy, primary

cerebellar atrophy, secondary

cerebellar degeneration

cerebellar hemangioma

cerebellar hypoplasia

cerebellar lesion

cerebellar plaques, amyloid

cerebellar vermis

cerebellum

cerebellum, disease of

cerebellum, neoplasms of

cerebral cortex

cerebral cortical atrophy

cerebral edema

cerebral palsy

cerebrospinal fluid, elevated protein of

cerebrospinal fluid, lactic acid concentration

cerebrospinal fluid, pressure low

cerebrospinal fluid, proteincytologic dissociation

cerebrospinal fluid, xanthochromia of

cerebrotendinous xanthomatosis

cerebrovascular accident

cerebrovascular accident, mimics

cerebrovascular accident, young adult

channelopathy

Charcot-Marie-Tooth

chemotherapy, CNS treatment and complications with

chenodeoxycholic acid

chewing movements

children

chloride channel dysfunction

chromosomal abnormality

chronic progressive external ophthalmoplegia

ciguatera poisoning

cirrhosis

cisterna magna, enlarged

Clinical Pathologic Conference(C.P.C.)

clonus

clubfoot as related to neurologic disease

color vision, impaired

congestive heart failure

controversies in neurology

conus medullaris, lesion of

copper metabolism, abnormal

cornea, abnormal

corpus callosum

corpus callosum, atrophy of

corpus callosum, lesion of

corpus callosum, thinning

cortical blindness

cough

cranial nerve palsies

cranial neuropathy, multiple

cranio-cervical junction

creatine phosphokinase(CPK)elevated

Creutzfeldt-Jakob disease, genetic

cry, abnormal

cry, weak

Cuba

cultured skin fibroblasts

cyst

cyst, peritumoral

cyst, neoplastic cerebellum

degenerative diseases of CNS

dementia, frontotemporal

dementia, presenile

dementia, rapidly progressive

dementia, subcortical

dementia, transmissible

demyelinating disease

dentate nuclei, lesion of

dentatorubral-pallidoluysian atrophy

depression

dermatoglyphics

developmental disability

developmental milestones

developmental milestones, loss of

developmental retardation

dexterity, impaired

diabetes insipidus

diabetes mellitus

diabetes mellitus, chemical

diabetes mellitus, neurologic manifestations of

diagnostic criteria

diarrhea

differential diagnosis

difficulty climbing stairs

dilantin

diplopia

disability, neurological

disease modifying agents

distal muscle atrophy

dizziness

down-beat nystagmus

down-beat nystagmus, primary position of gaze

Dravet syndrome

drooling

drug abuse, inhalation

dyssynergia cerebellaris myoclonica

electrocardiogram, abnormal

electroencephalogram

electroencephalogram, abnormalities of

encephalopathy, progressive

enzyme, defect

epicanthal folds

epidemiology of neurology

episodic disorders

episodic neurologic deficits

executive dysfunction

exercise

exercise intolerance

exome sequencing

extraocular muscle lesion

eye movement, disorders of

facial appearance, abnormal

facial expression abnormality

facial nerve palsy, bilateral

familial hemiplegic migraine

familial periodic ataxia

family planning

fasciculation

fatal familial insomnia

fatigue

feeding disorder

fever

finger nose finger test

fingerprint bodies

fish

fluorescene in situ hybridization

Fragile-X associated tremor/ataxia-syndrome

fragile-X syndrome

fragile-X syndrome, carrier

frataxin

Friedreich's ataxia

Friedreich's ataxia, late onset

frontotemporal dementia, behavioral variant

fundus, abnormality of

gastrointestinal disease, neurologic complications

gastrointestinal motility

gastroparesis

gaze palsy

gaze palsy, supranuclear

genetic diagnosis, prenatal

genetic linkage

genetic neurologic disorders

genetic screening

genetic testing

genu of corpus callosum

Gerstmann-Straussler-Scheinker disease

globus pallidus, lesion of

globus pallidus, lesion of, bilateral

glucose tolerance test, abnormal

GLUT1 deficiency syndrome

glutamate dehydrogenase deficiency

glutamic acid

granular osmiphilic material

gray hair

growth hormone deficiency

growth retardation

Hallervorden Spatz disease

Hallgren's syndrome

hallucination

hallucination, visual

hearing problems in children

hemochromatosis, primary

hemophagocytic lymphohistiocytosis, cerebromeningeal

hemophagocytosis

hepatic encephalopathy

hepatic failure

hepatolenticular degeneration(Wilson's disease)

hepatolenticular degeneration(Wilson's disease), screening for

hepatolenticular degeneration, non-Wilsonian

hepatomegaly

hepatosplenomegaly

heralding manifestation

herniated disc, thoracic

HLA

hot cross bun sign

human T-lymphotropic virus type II(HTLV-II)

hydroxytryptophan L-5(L-5 HTP)

hyperactivity

hyperammonemic encephalopathy

hypogonadism, hypogonadotropic

hypokalemia

hypokalemic periodic paralysis

hypomyelination

hyponatremia

hypopigmentation of skin

inappropriate antidiuretic(A.D.H.)hormone, CNS involvement with

inattention

inborn errors of metabolism

inclusion bodies

inclusion bodies, eosinophilic cytoplasmic

inclusion bodies, eosinophilic intranuclear

inclusion bodies, intranuclear

inclusion bodies, ubiquitin

intellectual deterioration

intelligence quotient

internal capsule

internuclear ophthalmoplegia

internuclear ophthalmoplegia, bilateral

intestinal pseudoobstruction

intracranial pressure, increased

Jakob-Creutzfeldt disease

Jakob-Creutzfeldt disease, cerebellar variant

Kayser-Fleischer ring

Kearns-Sayre syndrome

keratoconus

Korsakoff's psychosis

kyphoscoliosis, neurologic causes of

Laurence-Moon-Bardet-Biedl syndrome

L-dopa

Leber's hereditary optic neuropathy

leg weakness, bilateral

Leigh's disease

Leigh's disease, adult variety

lenticular nucleus, lesion of, bilateral

leukemia

leukemia, neurologic findings assoc.with

leukodystrophy

leukoencephalopathy

leukoencephalopathy, adult onset, sporadic

leukoencephalopathy, differential diagnosis

leukoencephalopathy, hereditary diffuse

lipid storage disorder of CNS

liver disease

liver function enzymes

liver transplantation

lymphadenopathy

lymphoma

lysosomal storage disease

malformation, CNS, congenital

malignant hyperpyrexia

maple syrup urine disease

marche a petits pas

Marinesco-Sjogren syndrome

masked facies

MELAS syndrome

memory, defect of recent

memory, impairment of

meningismus

meningitis, carcinomatous

meningoencephalopathy

metabolic disorder, primary

metachromatic leukodystrophy

metachromatic leukodystrophy, adult onset

metachromatic leukodystrophy, juvenile

methotrexate

methylhydrazine derivatives

Mexican

microcephaly

microdontia

microhemorrhage, intracerebral

midbrain, atrophy

middle cerebellar peduncle

middle cerebellar peduncle, lesion

middle cerebellar peduncle, lesion, bilateral

Mini Mental Status Examination

misdiagnosis

mitochondrial disease

mitochondrial disease, pathogenesis

mitochondrial encephalomyopathy

MNGIE syndrome

molecular genetics

monoamine oxidase inhibitors

movement disorder, extrapyramidal

movement disorder, hyperkinetic

MRI

MRI, abnormal

MRI, CAT scan compared to

MRI, contrast enhanced

MRI, diffusion weighted

MRI, disappearing lesion on

MRI, FLAIR

MRI, high signal intensity of basal ganglia

MRI, negative

MRI, paramagnetic effect

MRI, punctate pattern

MRI, serial

MRI, spinal cord

MRI, T1 weighted high signal foci

MRS

mucopolysaccharidoses

multiple sclerosis

multiple sclerosis, misdiagnosis

multiple system atrophy

muscle atrophy, progressive

muscle weakness, proximal

myopathy, mitochondrial

neonatal screening, genetic neurologic disorders

neoplasm, metastatic to CNS

neoplasm, primary of CNS

neoplasm, primary of CNS-surgical treatment of

nerve biopsy

nerve conduction studies

nerve growth factor

neuritis

neuroaxonal dystrophy

neuroaxonal dystrophy, infantile

neuroaxonal dystrophy, juvenile

neuroaxonal leukodystrophy

neurocutaneous disease

neuroendocrinology

neurofibrillary degeneration

neurofibromatosis 1

neurogenic bladder

neurologic complications of, systemic cancer

neurologic complications of, systemic disease

neurologic disease

neurologic disease, diagnoses of

neurologic examination, focal

neurologic signs

neurologic testing

neuromyotonia

neuronal ceroid-lipofuscinosis

neuronal intranuclear inclusion disease

neuronopathy

neuronopathy, sensory

neuroophthalmology

neuropathology

neuropathology, brain

neuropathy

neuropathy, ataxic

neuropathy, demyelinating

neuropathy, hereditary peripheral

neuropathy, hypertrophic

neuropathy, onion bulb

neuropathy, peripheral

next-generation sequencing

nutritional deficiency

nystagmus

nystagmus, gaze-evoked

nystagmus, gaze-paretic

nystagmus, hereditary

nystagmus, monocular

nystagmus, periodic

nystagmus, primary position of gaze

nystagmus, rotary

nystagmus, upbeating-in primary position of gaze

nystagmus, vertical

obesity

ocular dysmetria

ocular motility, disorders of

ocular myopathy

oculodentodigital dysplasia

old age, neurology of

ophthalmoplegia

ophthalmoplegia, progressive external

opisthotonus

optic ataxia

optic atrophy

optic atrophy, hereditary

optic neuropathy

optical coherence tomography

optokinetic nystagmus, abnormal

orbit, tomograms of

orthostatic hypotension

oscillopsia

ovarian dysgenesis

ovarian insufficiency

paramyotonia congenita

paranoia

paraparesis

paraparesis, familial spastic

paraparesis, familial spastic, classification

Parkinson disease, dystonia with

Parkinson disease, familial

Parkinsonism multiple-system atrophy

Parkinsonism syndrome

paroxysmal hemiplegia

paroxysmal neurologic deficits

PAS positive

PAS positive material in the brain

past pointing

pathology

patient information and support

photosensitivity, skin

physostigmine

phytanic acid

pigmentary retinopathy

pleocytosis of cerebrospinal fluid

pneumonia

poison, mercury

poison, neurologic problems with

POLG1 gene

POLR3B

polydactyly

polymerase chain reaction

polyneuropathy

pons, atrophy

pons, lesion of

pontocerebellar atrophy

portal caval shunt

positional head-hanging test

postural abnormality

potassium channel antibodies

potassium channel dysfunction

Prader-Labhart-Willi syndrome

precipitating factors

pregnancy, neurologic complications in

prenatal diagnosis by amniocentesis

pretectal syndrome

prevention of neurologic disorders

primary episodic ataxia

prion disease

prion protein gene

prisoners of war, neurologic complications in

progressive infantile poliodystrophy

progressive neurologic disorder

progressive pallidum atrophy

proprioception, abnormal

protein 14-3-3, cerebrospinal fluid

proteinuria

pseudobulbar palsy

pseudoretinitis pigmentosa

psychiatric disorder

psychiatric problems in neurologic disorders

psychological testing

psychological testing, neurologic problems

psychomotor retardation

pursuit eye movements, abnormal

putamen, lesion of

putamen, lesion of, bilateral

pyramidal

pyramidal tract

pyramidal tract dysfunction

pyruvate dehydrogenase deficiency

pyruvate metabolism, abnormality of

quadriparesis

quadriplegia

radiation hypersensitivity

radiation therapy, CNS treatment and complications with

radiation therapy, stereotactic

ragged-red fibers

rapid onset dystonia parkinsonism

rapidly progressing neurologic illness

rash

reading disorder, acquired

real-time quaking-induced conversion

recurrent

Refsum's disease

rehabilitation for neurologic disorders

release phenomena

remote effect of cancer on the nervous system

renal failure

respiratory failure

respiratory tract infection

reversible neurologic disorder

saccadic eye movements, abnormal

salivation, excessive

seizure, laughing as manifestation

seizure, neonatal

seizure, paradoxical

seizure, photosensitive

seizure, psychomotor-temporal lobe

seizure, tonic-clonic

seizure, treatment of

self-mutilation

semialdehyde dehydrogenase deficiency

sensorineural hearing loss

sensory ganglia

sensory ganglia, abnormal

skin, lesions in neurologic disorders

sleep apnea

sleep pathology and physiology

slurred speech

smiling

sodium channel dysfunction

somatosensory evoked potentials

spastic ataxia

spastic paraplegia, type 7

spasticity

speech disorder

speech disorder, childhood

speech disorder, non aphasic

speech, delayed development of

speech, loss of

Spielmeyer Vogt syndrome

spinal cord, lesion of

spinal cord, neoplasm

spinal cord, pathologic exam of

spinal muscular atrophy

spinocerebellar ataxia

spinocerebellar ataxia type 1

spinocerebellar ataxia type 10

spinocerebellar ataxia type 12

spinocerebellar ataxia type 14

spinocerebellar ataxia type 17

spinocerebellar ataxia type 2

spinocerebellar ataxia type 28

spinocerebellar ataxia type 3/Machado Joseph disease

spinocerebellar ataxia type 5

spinocerebellar ataxia type 6

spinocerebellar ataxia type 7

spinocerebellar ataxia type 8

spinocerebellar degeneration

spinopontine atrophy, dominant

splenium of corpus callosum

splenomegaly

spongy degeneration of brain

steroid therapy, CNS treatment and complications with

storage disease of CNS

strabismus

stress, emotional

striatonigral degeneration

striatonigral degeneration, infantile

striopallidodentate calcifications, familial idiopathic

superior cerebellar peduncle

symmetric brain lesions

syncope

syndactyly

syphilis, neurologic complications with

teeth, number of in infants

teeth, wide-spaced

telangiectases

temper tantrums

temporal lobe, lesion

term infant

testicular enlargement

thalamus, lesion of

thalamus, lesion of-bilateral

thrombocytopenia

tinnitus

titubation

tongue, protrusion of

topiramate

toxins, nervous system

transient neurologic deficit

trazodone

treatment of neurologic disorder

trinucleotide repeats

Unverricht-Lundborg disease

upgaze, paralysis of

urea-cycle enzymopathies

urinary frequency

urinary incontinence

urinary urgency

urine test for metabolic disorders

Usher's syndrome

vertigo

vertigo, episodic

vertigo, treatment of

vestibular areflexia

vestibulopathy

vibratory sensation, abnormal

vinblastine

vincristine neurotoxicity

viral isolation

vision, failure of in childhood

visual acuity, decreased

visual field defect

visual fields, constricted

visual loss

visual loss, progressive

visual loss, slow

visuospatial disturbance

vitamin supplementation

vitiligo

vocal cord paralysis

voice, abnormality of

Von Hippel Lindau

walking frame

walking, difficulty with

walking, difficulty with in dark

war

weakness

weakness, generalized

weakness, progressive

weaning from respirator, failure to

web sites

weight loss

Western immunoblot test

wheelchair

white matter disease

whole genome sequencing

X-linked bulbospinal neuronopathy

x-linked intellectual deficit

x-linked mental retardation

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Niemann-Pick Type C Disease
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Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
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A 59-Year-Old Female Patient with Urinary Dysfunction and Lightheadedness
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
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The Spectrum of Fragile X Disorders
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A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
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A 35-Year-Old Woman with Personality Change and Gait Impairment
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Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
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A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
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A 24-Year-Old Man with Spastic Ataxia and Hypodontia
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A 48-Year-Old Man With Spasticity and Progressive Ataxia
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Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
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Neuroimaging Features of Biotinidase Deficiency
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More Than a Little Unsteady
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Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
Lancet 400:1144, Sabino de Oliveira, D.,et al, 2022

The Phenotypic Continuum of ATP1A3-Related Disorders
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Adult-Onset Niemann-Pick Disease Type C Masquerading As Spinocerebellar Ataxias
Mol Genet Genomic Med 10:e1906, Vo,M.L.,et al, 2022

A Middle-Aged Man with Progressive Gait Abnormalities
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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A 28-Year-Old Woman with Vision Loss and an Unusual Gait
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Hypointensity of the Basal Ganglia in Adults with Glucose Transporter Protein Type 1 Deficiency Syndrome: A Novel Magnetic Resonance Imaging Finding
Ann Neurol 87:10-11, Van Samkar, A.,et al, 2020

A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
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Complex Ataxia
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A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
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GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
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When MRI is a Clue in Episodic Ataxia
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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An Unusual Fundus Finding in a Teenage Girl
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
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Cognitive Impairment Profile in adult Patients with Neimnn Pick Type C Disease
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A 13-year-old boy with Chronic Ataxia and Developmental Delay
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Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
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A Middle-aged man with Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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Neurological Management of Von Hippel-Lindau Disease
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SPG7 Mutations Explain a Significant Proportion of French Canadian Spastic Ataxia Cases
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
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Cerebral Abnormalities in Adults with Ataxia-Telangiectasia
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Neuronal Intranuclear Inclusion Disease Cases with Leukoencephalopathy Diagnosed via Skin Biopsy
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Progressive Neuropsychiatric Symptoms and Motor Impairment
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Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Gertsmann-Straussler Schneinker Syndrome
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Degenerative Diseases of the Nervous System, Friedreich Ataxia
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Degenerative Diseases of the Nervous System, Cerebellar Degeneration
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Showing articles 0 to 50 of 3337 Next >>