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 0 to 50 of 5708 Next >>

A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
Neurol 104:e213593, Pence, K.L. &Clark, R.A., 2025

A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024

A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023

Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023

The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022

Strokelike Episodes in a Patient with Chronic Gait Abnormalities
JAMA Neurol 76:621-622, Santoro, J.D. & Chitnis, T., 2019

Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019

When MRI is a Clue in Episodic Ataxia
Neurol 93:e2074-e2075, Dhawan, S.R.,et al, 2019

A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018

FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018

Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017

A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
Neurol 89:e220-e223, Xiao, F. & Wang, X.F., 2017

Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017

Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations
NEJM 360:1960-1970, Bockenhauer,D.,et al, 2009

Angelman Syndrome Revisited
Neurologist 13:305-312, Paprocka,J.,et al, 2007

Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
Brain 130:2484-2493, Jen, J.C.,et al, 2007

Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006

Epilepsy Syndromes in Infancy
Pediatr Neurol 34:253-263, Korff,C.M. &Nordii,D.R.,Jr., 2006

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

Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006

Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005

Clinical Spectrum of Episodic Ataxia Type 2
Neurol 62:17-22, Jen,J.,et al, 2004

Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003

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

Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000

Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000

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

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

Neurological Channelopathies, Dysfunctional Ion Channels May Cause Many Neurological Diseases
BMJ 316:1104-1105, Rose,M.R., 1998

Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998

The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
Ann Neurol 44:731-739,715, Dichgans,M.,et al, 1998

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

Familial episodic Ataxia:Clinical Heterogeneity in Four Families Linked to Chromosome 19p
Ann Neurol 41:8-16, 41997., Baloh,R.W.,et al, 1997

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

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

Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
Ann Neurol 39:352-360, Scolding,N.J.,et al, 1996

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

Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
Ann Neurol 37:769-775, Ikeuchi,T.,et al, 1995

Methylmercury Poisoning:Long-Term Clinical, Radiological, Toxicological, and Pathological Studies of an Affected Family
Ann Neurol 35:680-688, Davis,L.E.,et al, 1994

Cerebromeningeal Haemophagocytic Lymphohistiocytosis
Lancet 239:104-107, Henter,J.&Elinder,G., 1992

Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992

Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992

Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991

Acetazolamide-Responsive Vestibulocerebellar Syndrome:Clinical & Oculographic Features
Neurol 41:429-433, Baloh,R.W.&Winder,A., 1991

Late Onset of Distinct Neurologic Syndromes in Galactosemic Siblings
Neurol 39:741-742, Friedman,J.H.,et al, 1989

Paroxysmal Cerebellar Ataxia
Aust NZ J Med 19:113-117, Feeney,G.F.&Boyle,R.S., 1989

Showing articles 0 to 50 of 5708 Next >>