Neudle.com: cerebellar ataxia hereditary

Differential
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abdominal distention

abducens nerve paralysis

acoustic neurinoma, bilateral

Addison's disease

adrenomyeloneuropathy

advances in neurology

adverse drug reaction

aggression

akinetic mute

alcohol intolerance

alcohol, neurologic complications with

alcoholism

Alexanders disease

Alexanders disease, adult onset

algorithm

alkylating agents

alpha-fetoprotein

altered states of consciousness

alternating hemiplegia

alternating hemiplegia of childhood

alternating rapid movement

alternating rapid movement, impaired

Alzheimer's disease

amyloid plaques

amyotrophic lateral sclerosis

Angelman syndrome

aniridia

ankle reflex, absent

antibodies to voltage-gated calcium channels

anticholinesterase

anticonvulsants

anticonvulsants, effectiveness

antimetabolite

antioxidant

apraxia

apraxia of eye movements

areflexia

Arnold Chiari malformation

ataxia telangiectasia

ataxic-dystonia syndromes

ataxin

ataxin-2

atherosclerosis, premature

auditory evoked brainstem potentials

autonomic dysfunction

autosomal rcessive spastic ataxia of Charlevoix-Saguenay

axonal spheroid

Babinski sign

baclofen

basal ganglia, calcification of

basal ganglia, degeneration

basal ganglia, lesion of

basal ganglia, lesion, bilateral

Bassen-Kornzweig syndrome

blood dyscrasias, neurologic findings with

brainstem, neoplasms of

cachexia

CAG repeats

calcification, intracranial

calcium channel dysfunction

cane

carcinoembryonic antigen

CAT scan, emission, abnormal

cataracts

cataracts, congenital

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 palsy

cerebrospinal fluid, lactic acid concentration

cerebrospinal fluid, pressure low

cerebrospinal fluid, proteincytologic dissociation

cerebrotendinous xanthomatosis

Charcot-Marie-Tooth

chemotherapy, CNS treatment and complications with

children

chloride channel dysfunction

chromosomal abnormality

chronic progressive external ophthalmoplegia

cirrhosis

cisterna magna, enlarged

Clinical Pathologic Conference(C.P.C.)

clonus

clubfoot as related to neurologic disease

congestive heart failure

conjunctival biopsy

consanguinity

contractures, joint

controversies in neurology

conus medullaris, lesion of

cornea, abnormal

corpus callosum

corpus callosum, atrophy of

corpus callosum, lesion of

corpus callosum, thinning

cortical blindness

cough

cranial neuropathy, multiple

cranio-cervical junction

creatine phosphokinase(CPK)elevated

Creutzfeldt-Jakob disease, genetic

Cuba

cultured skin fibroblasts

cyst

cyst, peritumoral

cyst, neoplastic cerebellum

degenerative diseases of CNS

dementia, frontotemporal

dementia, presenile

dementia, rapidly progressive

dementia, transmissible

demyelinating disease

dentate nuclei, lesion of

dentatorubral-pallidoluysian atrophy

depression

dermatoglyphics

developmental disability

developmental milestones

developmental milestones, loss of

developmental retardation

differential diagnosis

difficulty climbing stairs

down-beat nystagmus, primary position of gaze

dyssynergia cerebellaris myoclonica

dystonia

electroencephalogram

electroencephalogram, abnormalities of

epidemiology of neurology

episodic neurologic deficits

extraocular muscle lesion

eye movement, disorders of

facial appearance, abnormal

facial expression abnormality

facial nerve palsy, bilateral

facial pain

falling

familial

familial hemiplegic migraine

familial periodic ataxia

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 neurologic disorders

genetic screening

genetic testing

Gerstmann-Straussler-Scheinker disease

Gillespie syndrome

glaucoma

gliosis

globus pallidus, lesion of

glucose tolerance test, abnormal

glutamate dehydrogenase deficiency

glutamic acid

granular osmiphilic material

growth retardation

Hallervorden Spatz disease

hemochromatosis, primary

hepatic encephalopathy

hepatic failure

hepatolenticular degeneration(Wilson's disease)

hepatomegaly

heralding manifestation

HLA

hot cross bun sign

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

hydroxytryptophan L-5(L-5 HTP)

hypogonadism, hypogonadotropic

hypokalemic periodic paralysis

hypomyelination

hyponatremia

hypopigmentation of skin

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

inborn errors of metabolism

inclusion bodies

inclusion bodies, eosinophilic cytoplasmic

inclusion bodies, eosinophilic intranuclear

inclusion bodies, intranuclear

inclusion bodies, ubiquitin

incoordination

infection

intellectual deficit

intellectual deterioration

internuclear ophthalmoplegia

internuclear ophthalmoplegia, bilateral

intestinal pseudoobstruction

intracranial pressure, increased

iris, abnormal

irritability

isoniazid

Jakob-Creutzfeldt disease

Jakob-Creutzfeldt disease, cerebellar variant

jaw pain

karyotyping

Kearns-Sayre syndrome

keratoconus

Korsakoff's psychosis

kyphosis

lactic acidemia

laughing, pathologic

Laurence-Moon-Bardet-Biedl syndrome

L-dopa

leg weakness, bilateral

Leigh's disease

leukemia

leukemia, neurologic findings assoc.with

leukodystrophy

leukoencephalopathy

leukoencephalopathy, differential diagnosis

leukoencephalopathy, hereditary diffuse

life expectancy

lipid storage disorder of CNS

lymphoma

macrognathia

macular degeneration

malformation, CNS, congenital

malignant hyperpyrexia

marche a petits pas

Marinesco-Sjogren syndrome

masked facies

memory, impairment of

meningismus

meningitis, carcinomatous

meningoencephalopathy

mental retardation

metabolic acidosis

metachromatic leukodystrophy

metachromatic leukodystrophy, adult onset

methotrexate

methylhydrazine derivatives

Mexican

microcephaly

microdontia

microhemorrhage, intracerebral

midbrain, atrophy

middle cerebellar peduncle

middle cerebellar peduncle, lesion

middle cerebellar peduncle, lesion, bilateral

mitochondrial disease

mitochondrial encephalomyopathy

MNGIE syndrome

molecular genetics

monoamine oxidase inhibitors

mortality

motor neuron disease

movement disorder

movement disorder, extrapyramidal

movement disorder, hyperkinetic

MRI

MRI, abnormal

MRI, CAT scan compared to

MRI, contrast enhanced

MRI, diffusion weighted

MRI, FLAIR

MRI, negative

MRI, punctate pattern

MRI, serial

MRI, spinal cord

MRS

mucopolysaccharidoses

multiple sclerosis

multiple sclerosis, misdiagnosis

multiple system atrophy

muscle weakness, proximal

neoplasm, metastatic to CNS

neoplasm, primary of CNS

neoplasm, primary of CNS-surgical treatment of

nerve conduction studies

neuritis

neuroaxonal dystrophy

neuroaxonal dystrophy, infantile

neuroaxonal dystrophy, juvenile

neuroaxonal leukodystrophy

neurocutaneous disease

neuroendocrinology

neurologic complications of, systemic cancer

neurologic complications of, systemic disease

neurologic disease

neurologic disease, diagnoses of

neurologic signs

neuronal ceroid-lipofuscinosis

neuronal intranuclear inclusion disease

neuronopathy

neuronopathy, sensory

neuroophthalmology

neuropathology

neuropathology, brain

neuropathy

neuropathy, demyelinating

neuropathy, hereditary peripheral

neuropathy, peripheral

neuropathy, sensory

neurotoxin

neurotransmitter

next-generation sequencing

Niemann-Pick disease

nitrogen mustard

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 motility, disorders of

ocular myopathy

oculodentodigital dysplasia

old age, neurology of

ophthalmoplegia

ophthalmoplegia, progressive external

optic ataxia

optic atrophy

optical coherence tomography

orbit, tomograms of

orthostatic hypotension

paramyotonia congenita

paranoia

paraparesis

paraparesis, familial spastic

paraparesis, familial spastic, classification

paraparesis, spastic

paresthesias

Parkinson disease

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

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

positional head-hanging test

postural abnormality

potassium channel antibodies

potassium channel dysfunction

precipitating factors

pregnancy, neurologic complications in

prevention of neurologic disorders

progressive infantile poliodystrophy

progressive neurologic disorder

progressive pallidum atrophy

proprioception, abnormal

protein 14-3-3, cerebrospinal fluid

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

reading disorder, acquired

real-time quaking-induced conversion

recurrent

release phenomena

remote effect of cancer on the nervous system

respiratory failure

respiratory tract infection

saccadic eye movements, abnormal

seizure, photosensitive

seizure, psychomotor-temporal lobe

seizure, tonic-clonic

seizure, treatment of

sensorineural hearing loss

skin, lesions in neurologic disorders

sleep apnea

sleep pathology and physiology

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 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

splenomegaly

spongy degeneration of brain

storage disease of CNS

striatonigral degeneration

striatonigral degeneration, infantile

striopallidodentate calcifications, familial idiopathic

stuttering

subcortical U fibers

superior cerebellar peduncle

symmetric brain lesions

syndactyly

syphilis, neurologic complications with

teeth, number of in infants

teeth, wide-spaced

telangiectases

thalamus, lesion of

thalamus, lesion of-bilateral

tinnitus

titubation

tongue, protrusion of

topiramate

toxins, nervous system

transient neurologic deficit

trazodone

treatment of neurologic disorder

tremor

tremor, cerebellar

tremor, intention

trinucleotide repeats

vibratory sensation, abnormal

vinblastine

vincristine neurotoxicity

vision, failure of in childhood

visual acuity, decreased

visual field defect

visual fields, constricted

visual loss

visual loss, progressive

vitamin supplementation

vocal cord paralysis

voice, abnormality of

Von Hippel Lindau

walking frame

walking, difficulty with

walking, difficulty with in dark

weakness

weakness, generalized

weakness, progressive

weaning from respirator, failure to

weight loss

Western immunoblot test

X-linked bulbospinal neuronopathy

Showing articles 50 to 100 of 3297 << Previous Next >>

Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006

Autonomic Dysfunction in Machado-Joseph Disease
Arch Neurol 62:630-636, Yeh,T-H.,et al, 2005

The Clinical and Genetic Spectrum of Spinocerebellar Ataxia 14
Neurol 64:1258-1260, Chen,D-H.,et al, 2005

The Parkinsonian Phenotype of Spinocerebellar Ataxia Type 2
Arch Neurol 61:35-38, Lu,C.,et al, 2004

Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
Arch Neurol 61:875-880, Smith,C.O.,et al, 2004

Clinical Features and Neuropathology of Autosomal Dominant Spinocerebellar Ataxia (SCA17)
Ann Neurol 43:367-375, Rolfs,A.,et al, 2003

Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction.
AJNR 23:1757-1766, Brunberg,J.A.,et al, 2002

Clinical Features and ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10
Arch Neurol 59:1285-1290, Grewal,R.P.,et al, 2002

Spinocerebellar Ataxia Type 10 is Rare in Populations Other Than Mexicans
Neurol 58:983-984, Matsuura,T.,et al, 2002

Spinocerebellar Ataxia Type 2 Presenting as Familial Levodopa-Responsive Parkinsonism
Ann Neurol 50:812-815, Shan,D.,et al, 2001

Recessive Ataxia With Ocular Apraxia
Arch Neurol 58:201-205,173, Barbot,C.,et al, 2001

SCA-12: Tremor with Cerebellar and Cortical Atrophy is Associated with a CAG Repeat Expansion
Neruol 56:299-303,287, O'Hearn,E.,et al, 2001

Genetic Testing in Spinocerebellar Ataxias
Arch Neurol 58:191-195, Tan,E. &Ashizawa,T., 2001

Gluten Sensitivity in Sporadic and Hereditary Cerebellar Ataxia
Ann Neurol 49:540-543, Bushara,K.O.,et al, 2001

Evolution of Sporadic Olivopontocerebellar Atrophy Into Multiple System Atrophy
Neurol 55:527-532, Gilman,S. et al, 2000

Spinocerebellar Ataxia Type 8
Neurol 55:649-657, Day,J.W. et al, 2000

Molecular Basis of the Neurodegenerative Disorders
NEJM 340:1970-1980, Martin,J.B., 1999

Clinical and MRI Findings in Spinocerebellar Ataxia Type 5
Neurol 53:1355-1357, Stevanin,G.,et al, 1999

Progressive Atrophy of Cerebellum & Brainstem, Age & Size of Expanded CAG Repeats in the MJDI Gene in Machado-Joseph Dis
Ann Neurol 43:288-296, Onokera,O.,et al, 1998

Neuroradiologic Findings in Marinesco-Sjogren Syndrome
AJNR 19:281-283, Georgy,B.A.,et al, 1998

Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998

Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
JNNP 65:396-399, Yoshii,F.,et al, 1998

Clinical Usefulness of Magnetic Resonance Imaging in Multiple System Atrophy
JNNP 65:65-71, Schrag,A.,et al, 1998

CAG Repeat Number Correlates with the Rate of Brainstem and Cerebellar Atrophy in Machado-Joseph Disease
Neurol 51:882-884, Abe,Y.,et al, 1998

Incidence of Dominant Spinocerebellar and Friedreich Triplet Repeats Among 361 Ataxic Families
Neurol 51:1666-1671, Moseley,M.L.,et al, 1998

Ion Channels and Neurological Disease:DNA Based Diagnosis is Now Possible,and Ion Channels May be Important in Common Paroxysmal Disorders
JNNP 65:427-431, Hanna,M.G.,et al, 1998

The Expansion of the CAG Repeat in Ataxin-2 is a Frequent Cause of Autosomal Dominant Spinocerebellar Ataxia
Neurol 49:1009-1013, Lorenzetti,D.,et al, 1997

Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
Neurol 49:1238-1243, 11961997., Matsumura,R.,et al, 1997

Clinical and Molecular Features of Spinocerebellar Ataxia Type 6
Neurol 49:1243-1246, 11961997., Stevanin,G.,et al, 1997

Spinocerebellar Ataxia Type 6, Frequency of the Mutation & Genotype-Phenotype Correl
NEurol 49:1247-1251, Geschwind,D.H.,et al, 1997

Cerebral & Cerebellar Atrophy on Serial MRI in an Initially Symptom Free Subject at Risk of Familial Prion Disease
BMJ 315:856-857, Fox,N.C.,et al, 1997

Adult-Onset Neimann-Pick Type C Disease, Clinical, Biochemical and Genetic Study
Arch Neurol 54:1536-1541, Lossos,A.,et al, 1997

Calcium Channels in Neurological Disease
Ann Neurol 42:275-282, Greenberg,D.A., 1997

Machado-Joseph Disease in 4 Chinese Pedigrees:Molecular Analysis of 15 Pts
Neurol 48:482-485, Zhou,Y.X.,et al, 1997

Familial Idiopathic Brain Calcification with Autosomal Dominant Inheritance
Neurol 48:645-649, Kobari,M.,et al, 1997

Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996

Isolated Vitamin E Deficiency
Muscle & Nerve 19:1161-1165996., Jackson,C.E.,et al, 1996

The Inherited Ataxias and the New Genetics
JNNP 61:327-332, Hammans,S.R., 1996

The Epilepsy of Trisomy 9p
Neurol 47:821-824, Stern,J.M., 1996

Familial Hemiplegic Migraine, Nystagmus and Cerebellar Atrophy
Ann Neurol 39:100-106, Elliott,M.A.,et al, 1996

Adult-Onset Spinocerebellar Dysfunction Caused by a Mutation in the Gene for the a-Tocopherol-Transfer Protein
NEJM 333:1313-1318, 13511995., Gotoda,T.,et al, 1995

Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
Lancet 1458-1463, Barrett,T.G.,et al, 1995

Hereditary Adult-Onset Alexander's Disease with Palatal Myoclonus, Spastic Paraparesis and Cerebellar Ataxia
Neurol 45:2266-2271, Schwankhaus,J.D.,et al, 1995

A Gene for Hereditary Paroxysmal Cerebellar Ataxia Maps to Chromosome 19p
Ann Neurol 37:289-293, 2851995., Vahedi,K.,et al, 1995

Clinicopathological Study of 35 Cases of Multiple System Atrophy
JNNP 58:160-166, Wenning,G.K.,et al, 1995

The Synd of Autosomal Recessive Pontocerbellar Hypoplasia, Microcephaly, & Extrapyr Dyskinesia (Pontocereb Hypopl Type 2)
Neurol 45:311-317, Barth,P.G.,et al, 1995

Clinical, Neuropath & Genetic Studies of Large Spinocerebellar Ataxia Type 1 (SCA1) Kindred: (CAG) n Early Premonitory Signs & Symp
Neurol 45:24-30, Genis,D.,et al, 1995

Autosomal Dominant Cerebellar Phenotypes:The Genotype has Settled the Issue
Neurol 45:1-5, Rosenberg,R.N., 1995

Levorotatory Form of 5-Hydroxytryptophan in Friedreich's Ataxia
Arch Neurol 52:456-460, Trouillas,P.,et al, 1995

Double-Blind Study with Levorotatory form of Hydroxytryptophan in Pts with Degen Cerebellar Dis
Arch Neurol 52:451-455, 4401995., Wessel,K.,et al, 1995

Showing articles 50 to 100 of 3297 << Previous Next >>