Neudle.com: familial episodic ataxia

Differential
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abducens nerve paralysis

acanthocytosis

acetazolamide

acoustic nerve

acromicria

acyl CoA dehydrogenase deficiency

altered states of consciousness

alternating hemiplegia

alternating hemiplegia of childhood

alternating rapid movement

antibodies to voltage-gated calcium channels

anticonvulsants

anticonvulsants, effectiveness

anticonvulsants, selection of

antimetabolite

aphasia

apnea

apnea, primary central

autonomic dysfunction

Babinski sign

basal ganglia

basal ganglia, calcification of

basal ganglia, degeneration

basal ganglia, lesion of

Bassen-Kornzweig syndrome

behavior, combative

behavioral disorder

biotin deficiency

biotinidase deficiency

blindness

blood dyscrasias, neurologic findings with

calcification, intracranial

calcium channel dysfunction

caudate nucleus, atrophy

central core disease

cerebellar ataxia, children

cerebellar ataxia, hereditary

cerebellar atrophy, primary

cerebellar degeneration

cerebellar lesion

cerebellar vermis

cerebral autosomal dominate arteriopathy with subcortical infarction and leukoencephalopathy

cerebral autosomal recessive arteriopathy with subcortical infarction and leukoencephalopathy

cerebral cortical atrophy

cerebral edema

cerebral infarction, subcortical

cerebral palsy

cerebrospinal fluid, lactic acid concentration

cerebrospinal fluid, pressure low

cerebrospinal fluid, proteincytologic dissociation

cerebrovascular accident

cerebrovascular accident, mimics

cerebrovascular accident, recurrent

cerebrovascular accident, young adult

channelopathy

Charcot-Marie-Tooth

chemotherapy, CNS treatment and complications with

cherry red spot-myoclonus syndrome

children

chloride channel dysfunction

chorea

chorea, familial

choreoathetosis

chromosomal abnormality

chronic progressive external ophthalmoplegia

ciguatera poisoning

Clinical Pathologic Conference(C.P.C.)

clonus

cobalamin C deficiency

Cockayne's syndrome

cognition

cogwheel rigidty

color vision, impaired

corpus callosum, lesion of

cortical blindness

cranial nerve palsies

cranial neuropathy, multiple

cry, abnormal

cry, weak

cryopyrin-associated periodic syndrome

cultured skin fibroblasts

degenerative diseases of CNS

delay in diagnosis

dementia

dementia, rapidly progressive

demyelinating disease

dentate nuclei, lesion of

dentatorubral-pallidoluysian atrophy

developmental milestones

developmental milestones, loss of

developmental retardation

diabetes insipidus

diabetes mellitus

diabetes mellitus, neurologic manifestations of

diagnostic criteria

differential diagnosis

difficulty climbing stairs

diplopia

down-beat nystagmus

down-beat nystagmus, primary position of gaze

Dravet syndrome

drooling

dropped head syndrome

dyssynergia cerebellaris myoclonica

electroencephalogram, abnormalities of

electromyogram

encephalopathy

encephalopathy, progressive

enzyme, defect

epicanthal folds

epileptic encephalopathy

episodic disorders

episodic neurologic deficits

exercise

exercise intolerance

exome sequencing

eye movement, disorders of

Fabry's disease

facial appearance, abnormal

facial expression abnormality

facial nerve palsy, bilateral

familial hemiplegic migraine

familial periodic ataxia

fine motor function, impaired

fingerprint bodies

fish

fluorescene in situ hybridization

gaze palsy, supranuclear

genetic diagnosis, prenatal

genetic neurologic disorders

globus pallidus, lesion of

globus pallidus, lesion of, bilateral

gout

granular osmiphilic material

growth hormone deficiency

Hallervorden Spatz disease

hemophagocytic lymphohistiocytosis, cerebromeningeal

Huntington's disease, children

hypertrophic intracranial pachymeningitis

hypofibrinogenemia

hypogonadism

hypokalemia

hypokalemic periodic paralysis

hypomyelination

hyponatremia

hypopigmentation of skin

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

inappropriate behavior

inborn errors of metabolism

inclusion bodies

inclusion bodies, eosinophilic cytoplasmic

incoordination

intellectual deficit

intellectual deterioration

intracerebral hemorrhage

intracranial pressure, increased

Kearns-Sayre syndrome

keratoconus

Korsakoff's psychosis

Laurence-Moon-Bardet-Biedl syndrome

Leigh's disease

Leigh's disease, adult variety

lenticular nucleus, lesion of, bilateral

leukemia, neurologic findings assoc.with

leukodystrophy

leukoencephalopathy

lipid storage disorder of CNS

liver disease

lymphadenopathy

lysosomal storage disease

macrognathia

macular degeneration

malformation, CNS, congenital

malignant hyperpyrexia

maple syrup urine disease

MELAS syndrome

memory, impairment of

meningismus

meningitis, aseptic

meningitis, carcinomatous

meningitis, CSF cell count-normal

meningoencephalopathy

mental retardation

MERRF syndrome

metabolic acidosis

metabolic disorder, primary

metachromatic leukodystrophy

metachromatic leukodystrophy, juvenile

methotrexate

methylhydrazine derivatives

methylmalonic acidemia

Mexican

microcephaly

microdontia

microhemorrhage, intracerebral

middle cerebellar peduncle

middle cerebellar peduncle, lesion

middle cerebellar peduncle, lesion, bilateral

mitochondrial disease

mitochondrial disease, pathogenesis

mitochondrial encephalomyopathy

molecular genetics

monoamine oxidase inhibitors

mortality

motor neuron disease

movement disorder

movement disorder, extrapyramidal

movement disorder, hyperkinetic

MRI

MRI, abnormal

MRI, diffusion weighted

MRI, disappearing lesion on

MRI, FLAIR

MRI, muscle

mucopolysaccharidoses

multiple sclerosis

multiple sclerosis, differential diagnosis of

multiple sclerosis, misdiagnosis

multiple system atrophy

muscle biopsy

muscle pain

muscle weakness

muscle weakness, proximal

myopathy, mitochondrial

neurologic complications of, systemic cancer

neurologic complications of, systemic disease

neurologic disease

neurologic disease, diagnoses of

neurologic examination, focal

neurologic signs

neurologic testing

neuromuscular disease, electrodiagnosis of

neuromyotonia

neuronal ceroid-lipofuscinosis

neuroophthalmology

neuropathology

neuropathology, brain

neuropathy

neuropathy, hereditary peripheral

neuropathy, peripheral

neurotoxin

neutropenia

next-generation sequencing

Niemann-Pick disease

nitrogen mustard

nystagmus

nystagmus, gaze-paretic

nystagmus, hereditary

oculodentodigital dysplasia

ophthalmoplegia

ophthalmoplegia, progressive external

opisthotonus

optic atrophy

optic atrophy, bilateral

optic atrophy, hereditary

optokinetic nystagmus, abnormal

orthostatic hypotension

paramyotonia congenita

paraparesis

paraparesis, familial spastic

paraparesis, spastic

paresthesias

Parkinson disease, dystonia with

Parkinsonism syndrome

paroxysmal hemiplegia

paroxysmal neurologic deficits

PAS positive

PAS positive material in the brain

patient information and support

periodic paralysis

peroxisomal disease

personality change

pleocytosis of cerebrospinal fluid

poison, mercury

poison, neurologic problems with

POLG1 gene

polydactyly

polymerase chain reaction

pons, atrophy

pons, lesion of

pontocerebellar atrophy

postural abnormality

potassium channel antibodies

potassium channel dysfunction

Prader-Labhart-Willi syndrome

precipitating factors

pregnancy, neurologic complications in

prenatal diagnosis by amniocentesis

pretectal syndrome

primary episodic ataxia

procarbazine

prognathism

prognosis

progressive infantile poliodystrophy

progressive myoclonic epilepsy

progressive neurologic disorder

progressive pallidum atrophy

proteinuria

pseudobulbar palsy

pseudoretinitis pigmentosa

pseudoxanthoma elasticum

psychiatric disorder

psychiatric problems in neurologic disorders

psychomotor retardation

pyramidal tract dysfunction

pyruvate dehydrogenase deficiency

pyruvate metabolism, abnormality of

quadriparesis

quadriplegia

rapid onset dystonia parkinsonism

rapidly progressing neurologic illness

respiratory tract infection

seizure, photosensitive

seizure, psychomotor-temporal lobe

seizure, tonic-clonic

seizure, treatment of

self-mutilation

semialdehyde dehydrogenase deficiency

sensorineural hearing loss

short stature

skin, lesions in neurologic disorders

skull bone, thickening

slurred speech

small vessel disease

small vessel disease, cerebral

smiling

sodium channel dysfunction

spastic diplegia

spasticity

speech disorder

speech disorder, childhood

speech, delayed development of

speech, loss of

Spielmeyer Vogt syndrome

spinocerebellar ataxia

spinocerebellar ataxia type 1

spinocerebellar ataxia type 10

spinocerebellar ataxia type 6

spinocerebellar degeneration

steroid therapy, CNS treatment and complications with

storage disease of CNS

strabismus

stress, emotional

striatonigral degeneration

striatonigral degeneration, infantile

strokelike episodes

stuttering

subarachnoid hemorrhage

substantia nigra

suck, poor

symmetric brain lesions

temporal lobe, lesion

tongue, protrusion of

topiramate

toxins, nervous system

transient ischemic attack

transient ischemic attack, recurrent

transient neurologic deficit

treatment of neurologic disorder

tremor

tremor, intention

tremulousness

trinucleotide repeats

tubulopathy

undiagnosed

Unverricht-Lundborg disease

upgaze, paralysis of

urea-cycle enzymopathies

urinary incontinence

urine test for metabolic disorders

Usher's syndrome

vasculopathy

venous thrombosis, non-cerebral

vertigo

vertigo, episodic

vertigo, treatment of

vinblastine

vincristine neurotoxicity

violent behavior

visual evoked response

visual field defect

visual fields, constricted

vitamin E deficiency

vocal cord paralysis

walking, difficulty with

weakness

weakness, progressive

white matter disease, subcortical

wide based gait

Wolfram syndrome

wrist drop

Showing articles 300 to 350 of 5708 << Previous Next >>

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

Multiple-System Atrophy is Genet Distinct from Ident Inherited Causes of Spinocerebellar Degen
Neurol 49:1598-1604, Brandmann,O.,et al, 1997

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

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

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

X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997

Predictors of Recurrent Febrile Seizures
Arch Pediatr Adolesc Med 151:371-378, Berg,A.T.,et al, 1997

Unusual Clinical Features and Early Brain MRI Lesions in a Family with Cerebral Autosomal Dominant Arteriopathy
Neurol 48:1200-1203, Malandrini,A.,et al, 1997

Clinicopath Conf
Progressive Supranuclear Palsy, Case 26, 1997, NEJM 337:549-55697., , 1997

Diagnostic Guidelines in Central Nervous System Whipple's Disease
Ann Neurol 40:561-568, Louis,E.D.,et al, 1996

Cytomegalovirus Encephalitis
Ann Int Med 125:577-578, Arribas,J.R.,et al, 1996

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

Adult-Onset MELAS
Stroke 27:1420-1423, Gilchrist,J.M.,et al, 1996

Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996

Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996

A Woman with a Relapsing Psychosis Who Got Better with Prednisone
Lancet 347:1288, Cohen,L.,et al, 1996

Hereditary Spastic Paraplegia:Advances in Genetic Research
Neurol 46:1507-1514, Fink,J.K.,et al, 1996

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

Familial Temporal Lobe Epilepsy:A Common Disorder Identified in Twins
Ann Neurol 40:227-235, Berkovic,S.F.,et al, 1996

X-Linked Malformation of Neuronal Migration
Neurol 47:331-339, Dobyns,W.B.,et al, 1996

Progressive Ataxia, Focal Seizures, and Malabsorption Syndrome in a 41 Year Old Woman
JNNP 60:225-230, Mumford,C.J.,et al, 1996

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

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

Non-Progressive Familial Idiopathic Intracranial Calcification:A Family Report
JNNP 59:432-434, Callender,J.S., 1995

Clinicopath Conf
Granulomatous Angiitis of CNS, Case 33-1995, NEJM 333:1135-1143995., , 1995

Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995

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

Spinocerebellar Ataxias and Ataxins
NEJM 333:1351-1353, Rosenberg,R.N., 1995

The Prevention of Neurogenetic Disease
Arch Neurol 52:356-362, 3451995., Rosenberg,R.N.&Iannaccone,S.T., 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

Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995

Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,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

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

Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995

Panic Attacks and Panic Disorder:The Great Neurologic Imposters
Semin Neurol 15:126-132, Stahl,S.M.&Soefje,S., 1995

Autosomal Dominant, Familial Spastic Paraplegia, Type I:Clinical and Genetic Analysis of a Large North American Family
Neurol 45:325-331, Fink,J.K.,et al, 1995

Neurologic Aspects of Inflammatory Bowel Disease
Neurol 45:416-421, Lossos,A.,et al, 1995

Machado Joseph Disease Maps to Same Region of Chromosome 14 as Spinocerebellar Ataxia Type 3 Locus
J Med Genet 32:25-31, Twist,E.C.,et al, 1995

Reduced GABA Synthesis in Pyridoxine-Dependent Seizures
Lancet 343:1133-1134, Gospe,S.M.,et al, 1994

Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,et al, 1994

Neurologic Manifestations of Cocaine Exposure in Childhood
Pediatrics 93:557-560, Mott,S.H.,et al, 1994

Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
Ann Neurol 36:368-378, Lampe,T.H.,et al, 1994

Familial Sneddon's Syndrome:Clinical, Hematologic, and Radiographic Findings in Two Brothers
Neurol 44:399-405, Pettee,A.D.,et al, 1994

Showing articles 300 to 350 of 5708 << Previous Next >>