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 50 to 100 of 5708 << Previous Next >>

Rett Syndrome:Natural History and Management
Pediatrics 82:1-10, Moeschler,J.B.,et al, 1988

Magnetic Resonance Imaging in Familial Paroxysmal Ataxia
Arch Neurol 45:547-549, Vighetto,A.,et al, 1988

Hereditary Dentatorubral-Pallidoluysian Atrophy:Clinical and Pathologic Variants in a Family
Neurol 38:1065-1070, Takahashi,H.,et al, 1988

Neuro-Ophthalmologic Findings in Vestibulocerebellar Ataxia
Arch Neurol 43:1050-1053, Farris,B.K.,et al, 1986

Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985

Acetazolamide-Responsive Episodic Ataxia Syndrome
Neurol 33:1212-1214, Zasorin,N.L.,et al, 1983

Olivopontocerebellar Atrophy in Children:A Report of Seven Cases in Two Families
Ann Neurol 10:355-363, Colan,R.V.,et al, 1981

Juvenile Metachromatic Leukodystrophy
Arch Neurol 37:42-46, Haltia,T.,et al, 1980

Familial Periodic Ataxia
Arch Neurol 36:568-569, Donat,J.R.,et al, 1979

Familial Subacute Necrotizing Encephalomyelopathy of the Adult Form (Adult Leigh Syndrome)
Ann Neurol 6:200-206, Kalimo,H.,et al, 1979

Familial Chorea & Myoclonus Epilepsy
Neurol 28:913-919, Takahata,N.,et al, 1978

Hereditary Paroxysmal Ataxia:Response to Acetazolamide
Neurol 28:1259-1264, Griggs,R.C.,et al, 1978

Progressive Spastic Paraparesis & Adrenal Insufficiency
Arch Neurol 33:678, Gumbinas,M.,et al, 1976

Neurotoxicity of Commonly Used Antineoplastic Agents
NEJM 291:75, 1271974., Weiss,H.,et al, 1974

Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972

A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025

A 67 YEar-Old Woman with Progressive Headache, Visual Hallucinations, and Seizures
Neurol 104:e213496, Gheihman,G.,et al, 2025

A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
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Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
Neurol 104:e213713, Rawat,R.,et al, 2025

A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
Neurol 103:e210046, Panigrahi,B.,et al, 2024

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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Vascular Malformations of the Central Nervous System
www.UptoDate.Com, March, Singer,R.J.,et al, 2024

A 24-Year-Old Man with Spastic Ataxia and Hypodontia
JAMA Neurol 81:658-659, Marien,L.,et al, 2024

Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024

A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
Neurol 103:e2098-e2030, Jones,F.J.S. & Orthmann-Murphy,J., 2024

Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
Neurol 103:e209844, Dhawan,A.,et al, 2024

Recurrent Rhombencephalitis Associatedwith Anti-GAD65 Antibody
Neurol 102:e208040, Alferes,A.R.,et al, 2024

Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria
JAMA Neurol 81:1-82, Chu,X.C.,et al, 2024

Supratentorial Lymphocytic Inflammation with Parenchymal Perivascular Enhancement Responsive to Steroids:A Potentially Overlooked Diagnosis
Ann Neurol 95:407-409, Tsibonakis,A.,et al, 2024

Neurologic Complications of Babesiosis, United States, 2011-2021
Emerg Inf Dis 29:1127-1135, Locke,S.,et al, 2023

A 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023

Movement Disorders in Patients with Genetic Developmental and Epileptic Encephalopathies
Neurol 101:e1884-e1892, van der Veen,S.,et al, 2023

A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
Neurol 100:631-637, Zeng,T.f.,et al, 2023

Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023

Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency
Neurol 101:46-49, deGusmao,C.M.,et al, 2023

Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023

Functional Neurological Disorders
Neurologist 27:276-289, Mishra, A. & Pandey, S., 2022

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

More Than a Little Unsteady
NEJM 387:e9, Kraft, A.W.,et al, 2022

Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
Ann Neurol 91:158-159, Jokela, M.,et al, 2022

Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022

A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022

Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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A 55-Year-Old Woman with Recurrent Episodes of Aphasia and Vision Changes
Neurol 98:330-335, Jeanneret, V.,et al, 2022

Clinicopathologic Conference, Anti-IgLON5 IgG-Associated Neurologic Disorder
NEJM 386:173-180, Case 1-2022, 2022

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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A Middle-Aged Man with Progressive Gait Abnormalities
Neurol 97:e2423-e2428, Lin, J.,et al, 2021

Showing articles 50 to 100 of 5708 << Previous Next >>