Neudle.com: storage disease of CNS

Differential
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abdominal cramps

acid maltase deficiency

acid maltase deficiency, adult

acral sensory symptoms

acute intermittant porphyria

adrenoleukodystrophy

adrenomyeloneuropathy

adult polyglucosan body disease

adult-onset leukodystrophy, with neuroaxonal spheroids

adverse drug reaction

alternating rapid movement

aminoacidopathies

aminoacidurias

amniocentesis

amyotrophic lateral sclerosis

amyotrophic lateral sclerosis, guamian type of

angina pectoris

angiokeratoma

anhidrosis

anterior horn cell disease

anterior tibial muscle weakness

anti GQ1b IgG antibody

anticonvulsants

anticonvulsants, selection of

Arnold Chiari malformation

arthropathy

arthropathy, neuropathic

arylsulfatase A

aspartate aminotransferase

aspiration

asymptomatic

ataxia

ataxia telangiectasia

atidarsagene autotemcel

attention

attention deficit disorder with hyperactivity

attention span

atypical

autoantibodies

autonomic dysfunction

basal ganglia, calcification of

basal ganglia, lesion of

basal ganglia, lesion, bilateral

basilar impression

Bassen-Kornzweig syndrome

blood dyscrasias, neurologic findings with

bone marrow biopsy

bone marrow transplantation

bradykinesia

brain atrophy

brain biopsy

brain biopsy, complications of

brain biopsy, false negative

brain biopsy, indication

brainstem, infarction of

bulbar palsy

burning feet

burning feet, differential diagnosis of

burning hands

burning paresthesia

calcification, intracranial

calcifications, intracranial, punctate

CAT scan, false negative

catalepsy

cataplexy

cataracts

cerebellar ataxia, children

cerebellar ataxia, children, differential diagnosis of

cerebellar atrophy, primary

cerebellar degeneration

cerebellar infarction

cerebellar lesion

cerebellum, disease of

cerebral cortical atrophy

cerebral ischemia

cerebral vasculature, calcification

cerebro hepato renal syndrome

cerebrospinal fluid, gammaglobulin of

cerebrospinal fluid, proteincytologic dissociation

cerebrotendinous xanthomatosis

cerebrovascular accident

cerebrovascular accident, cryptogenic

cerebrovascular accident, familial occurrence

cerebrovascular accident, non atherosclerotic cause of

cerebrovascular accident, young adult

cerebrovascular disease

cerebrovascular disease, cardiovascular disease with

chemotherapy, CNS treatment and complications with

cherry red spot

cherry red spot-myoclonus syndrome

children

chorea

choreoathetosis

chromosomal abnormality

chronic graft versus host disease

Clinical Pathologic Conference(C.P.C.)

congestive heart failure

conversion reaction, children

cornea, abnormal

cornea, opacification in infancy-causes of

cornea, opacity of

corneal dystrophy

corpus callosum

corpus callosum, hypoplastic

corpus callosum, lesion of

corpus callosum, thinning

cranial nerves, toxins effecting

cranial neuropathy, multiple

creatine phosphokinase(CPK)elevated

creatinine, elevated

cry, abnormal

cultured skin fibroblasts

cystinosis

deep gray nuclei

degenerative diseases of CNS

delay in diagnosis

dementia

dementia, childhood

dementia, diagnostic evaluation of

dementia, familial

dementia, frontal lobe type

dementia, presenile

dental pulp biopsy

dentatorubral-pallidoluysian atrophy

depression

developmental disability

developmental milestones, loss of

developmental retardation

diagnostic criteria

diarrhea

differential diagnosis

difficulty going down stairs

diplopia

disability, neurological

disease modifying agents

distal muscle weakness

DNA probes

drooling

dropped head syndrome

drug induced neurologic disorders

electroencephalogram, abnormalities of

electromyogram

electron microscopy

electronystagmography

electroretinograph

encephalitis, brainstem

episodic neurologic deficits

executive dysfunction

exercise intolerance

exome sequencing

eye movement, disorders of

Fabry's disease

facial appearance, abnormal

fine motor function, impaired

frontal lobe, anatomy and physiology

frontal lobe, lesion of

fucosidosis

fundus, abnormality of

gangliosidosis, generalized

gargoylism

Gaucher's disease

gaze palsy

gaze palsy, supranuclear

genetic diagnosis, prenatal

genetic linkage

genetic neurologic disorders

genetic screening

genetic testing

genu of corpus callosum

give-way weakness

globus pallidus

globus pallidus, lesion of

globus pallidus, lesion of, bilateral

glucocerebrosidase

glycogen storage disease

glycoprotein

GM1 ganglioside

GM1 ganglioside antibodies

granular osmiphilic material

growth retardation

Guillain Barre syndrome

Guillain Barre syndrome, ophthalmoplegia in

Hallervorden Spatz disease

hallucination

hallucination, visual

heavy metal intoxication

hemiparesis

hemiplegia

hemisensory loss

hemorrhagic diathesis

hepatic failure

hepatitis

hepatolenticular degeneration(Wilson's disease)

hepatomegaly

hepatosplenomegaly

heralding manifestation

herpes virus infection

hexosaminidase-A

hexosaminidase-A and B

hypotension, systemic

hypotonia

hypotonia, infants

iatrogenic neurologic disorders

immunosuppressive agents

inattention

inborn errors of metabolism

inborn errors of metabolism, screening

inclusion bodies

inclusion bodies, eosinophilic cytoplasmic

inclusion bodies, intracytopasmic

incoordination

infection, recurrent

intellectual deficit

intellectual deterioration

intelligence quotient

internuclear ophthalmoplegia

internuclear ophthalmoplegia, bilateral

intrathecal chemotherapy

intrathecal medication

intrinsic hand muscles, wasting of

introverted

iridoplegia

Jakob-Creutzfeldt disease

jaundice

Jewish

Kearns-Sayre syndrome

klippel feil syndrome

Krabbe's disease

kyphoscoliosis, neurologic causes of

Laurence-Moon-Bardet-Biedl syndrome

lead poisoning

learning disability, in children

Leigh's disease

leprosy

leukocyte enzyme abnormality

leukocyte peroxidase

leukodystrophy

leukoencephalopathy

leukoencephalopathy, adult onset, sporadic

leukoencephalopathy, differential diagnosis

leukoencephalopathy, hereditary diffuse

Lewy body disease, diffuse

life expectancy

limb-girdle weakness

lipid storage disorder of CNS

liver disease

lymphadenopathy

lymphocyte fingerprint profiles

lysosomal storage disease

Marinesco-Sjogren syndrome

megalencephaly

memory, defect of recent

memory, impairment of

meningitis, chronic

mental retardation

MERRF syndrome

metabolic disorder, primary

metabolic disorder, primary-screening tests

metachromatic leukodystrophy

metachromatic leukodystrophy, adult onset

metachromatic leukodystrophy, juvenile

metachromatic leukodystrophy, late-infantile

methotrexate

microangiopathy, brain

microcephaly

miglustat

mimics

Mini Mental Status Examination

misdiagnosis

mitral valve prolapse

molecular genetics

mongolism

monoclonal antibodies

monoclonal gammopathy

monoclonal gammopathy of uncertain significance

mortality

motor neuron disease

movement disorder

movement disorder, extrapyramidal

MRI

MRI, abnormal

MRI, black holes on

MRI, demyelinating disease

MRI, diffusion weighted

MRI, high signal foci on

MRI, hypointense signal foci on

MRI, magnetization transfer sequence

mucopolysaccharidoses

multiple sclerosis

multiple sclerosis, differential diagnosis of

multiple sclerosis, disability status scale

multiple sclerosis, misdiagnosis

muscle biopsy

muscle spasm

muscle wasting, diffuse

muscle weakness

muscle weakness, proximal

muscular dystrophy, Duchenne

myelomalacia

myeloneuropathy

myelopathy

myocardial infarction

myopathy, glycogen storage

myopathy, metabolic

myopathy, mitochondrial

myopathy, scleromyxedema

myopathy, vacuolar

myopia

N-acetyl-L-aspartic acid

N-acetyl-L-leucine

negative

nemaline rod myopathy

nemaline rod myopathy, adult onset

neonatal screening, genetic neurologic disorders

neoplasm, primary of CNS

nerve biopsy

neuraminidase deficiency

neuroaxonal dystrophy

neuroaxonal dystrophy, infantile

neuroaxonal dystrophy, juvenile

neuroaxonal leukodystrophy

neurofibrillary degeneration

neurogenic bladder

neuroichthyosis

neurolipidosis IV

neurologic complications of, systemic cancer

neurologic complications of, systemic disease

neurologic disease

neurologic disease, diagnoses of

neurologic examination

neurologic symptoms

neurologic testing

neuronal ceroid-lipofuscinosis

neuroophthalmology

neuropathic pain scale

neuropathology

neuropathology, brain

neuropathy

neuropathy, ataxic

neuropathy, demyelinating

neuropathy, diabetic

neuropathy, hereditary peripheral

neuropathy, medication induced

neuropathy, painful

neuropathy, peripheral

neuropathy, peripheral, treatment

neuropathy, small-fiber

neuropathy, small-fiber, painful sensory

neuropathy, toxic

neurosis

neurotoxin

next-generation sequencing

Niemann-Pick disease

night blindness

nystagmus

nystagmus, dissociated

old age, neurology of

one and a half syndrome

ophthalmoplegia

ophthalmoplegia, acute

ophthalmoplegia, bilateral, acute

ophthalmoplegia, plus syndrome

ophthalmoplegia, progressive external

ophthalmoplegia, total

optic atrophy

optic nerve

optic neuropathy

optokinetic nystagmus, abnormal

paraparesis, familial spastic

paraplegia

paraproteinemia

Parkinson disease, postencephalitic

Parkinsonism syndrome

paroxysmal neurologic deficits

PAS positive

PAS positive material in the brain

pigmentary retinopathy

polyglucosan body

polyglucosan body disease

polymerase chain reaction

polyneuropathy

polyneuropathy, chronic inflammatory demyelinating

polyneuropathy, chronic relapsing

polyneuropathy, uremic

Pompe's disease of glycogen storage

Pompe's disease, infantile

post herpetic neuralgia

posterior column disease

precipitating factors

preclinical

prenatal diagnosis by amniocentesis

prevention of neurologic disorders

prognosis

progressive myoclonic epilepsy

progressive neurologic disorder

proteinuria

pseudobulbar palsy

psychiatric disorder

psychiatric problems in neurologic disorders

psychological testing

psychological testing, children

psychomotor retardation

psychosis

psychotropic drugs

pupil, abnormality in neurologic disorders

putamen, lesion of

putamen, lesion of, bilateral

remote effect of cancer on the nervous system

renal failure

respiratory failure

respiratory tract infection

salivation, excessive

Salla disease

Sandhoff's disease

schizophrenia

scoliosis, neurologic association with

seizure, laughing as manifestation

seizure, paradoxical

seizure, treatment of

sensorineural hearing loss

sensory loss

sensory loss, psychogenic

sensory testing

sensory testing, split midline on

skin, lesions in neurologic disorders

skull x-ray, abnormal

slit lamp examination

slurred speech

small vessel disease

spasticity

speech, delayed development of

sphingomyelin

spinal cord

spinal cord, compression of

spinal cord, injury of

spinal cord, injury, management of

spinal cord, lesion of

spine, injury of

spinocerebellar degeneration

splenomegaly

startle reaction

stem cell transplantation

storage disease of CNS

strabismus

stuttering

subacute sclerosing panencephalitis(S.S.P.E.)Dawson's disease

subdural hematoma

systemic illness

tandem gait, ataxic

tapetoretinal degeneration

Tay-Sachs disease

thalamus, lesion of

thalamus, lesion of-bilateral

thallium poisoning

thrombocytopenia

toe walking

tone, muscle, increased

tongue, enlarged

transcutaneous electrical nerve stimulation

treatment of neurologic disorder

tremor

tremor, intention

tricyclic antidepressant

tripping

tuberous sclerosis

Unverricht-Lundborg disease

urea-cycle enzymopathies

urinary incontinence

urinary sulfatidase excretion

urine test for metabolic disorders

Usher's syndrome

vasculitides

vasculopathy

ventricular enlargement

vertebral-basilar insufficiency

vertigo

vestibulopathy

vibratory sensation, abnormal

viral infection, CNS

vision, failure of in childhood

visual acuity, decreased

visual evoked response

visual field defect

visual fields, constricted

visual impairment

visual loss

visual loss, progressive

visual loss, slow

visual loss, transient

visuospatial disturbance

walking, difficulty with

Wallerian degeneration

weakness

weakness, progressive

weakness, proximal

weight loss

Werdnig-Hoffman disease

West disease

wheelchair

white matter disease

whole genome sequencing

wide based gait

writing

Showing articles 100 to 150 of 7891 << Previous Next >>

Inborn Errors of Metabolism
Ann Neurol 11:221-232, Kolodny,E.H.,et al, 1982

Adult Dystonic Lipidosis, Clin Histo & Biochem Findings of a Neurovisceral Storage Dis
Neurol 32:1295-1299, Longstreth,W.T.Jr.,et al, 1982

Neuroaxonal Dystrophy in Young Adults:A Clinicopathological Study of Two Unrelated Cases
Ann Neurol 11:335-343, Williamson,K.,et al, 1982

Examination of Dental Pulp to Diagnose Infantile Neuroaxonal Dystrophy
Arch Neurol 39:422-423, Carlo,J.,et al, 1982

Santavuori Disease:Diagnosis by Leukocyte Ultrastructure
Neurol 32:1277-1281, Baumann,R.J.,et al, 1982

An Ultramicroscopic Study of Skin & Conjunctival Biopsies in Chronic Neuro. Disorders of Childhood
Ann Neurol 9:163-173, Arsenio-Nunes,M.L.,et al, 1981

Computed Tomography in Cerebrotendinous Xanthomatosis
Neurol 31:1463-1465, Berginer,V.M.,et al, 1981

Acute Thallium Poisoning, Toxicological & Morphological Studies of the Nervous System
Ann Neurol 10:38-44, Davis,L.E.,et al, 1981

A Progressive Neurologic Syndrome In Children With Chronic Liver Disease
NEJM 304:503-508, Rosenblum,J.L.,et al, 1981

Adrenoleukodystrophy:Elevated C26 Fatty Acid in Cultured Skin Fibroblasts
Ann Neurol 7:542-549, Moser,H.W.,et al, 1980

Diagnosis of Infatile Neuroaxonal Dystrophy by Skin Biopsy
Ann Neurol 7:377-379, Wisniewski,K.,et al, 1980

Adult Type Neuronal Storage Disease with Neuraminidase Deficiency
Ann Neurol 6:232-244, Miyatake,T.,et al, 1979

Prenatal Genetic Diagnosis in 3000 Amniocenteses
NEJM 300:157-163, Golbus,M.S.,et al, 1979

Alzheimer Neurofibrillary Tangles in Diseases Other Than Senile & Presenile Dementia
Ann Neurol 5:288-294, Wisniewski,K.,et al, 1979

Weakness in Malignancy:Evidence for a Remote Effect of Tumor on Distal Axons
Ann Neurol 4:268-274, Barron,S.A.,et al, 1978

Juvenile Amaurotic Idiocy (Neuronal Ceroid Lipofuscinosis) & Lymphocyte Fingerprint Profiles
Ann Neurol 4:531-536, Baumann,R.J.,et al, 1978

Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
Neurol 28:1008-1012, Miley,C.E.III.,et al, 1978

Diagnostic Significance of Myeloperoxidase Assay in Neuronal Ceroidlipofuscinoses (Batten-Vogt Syndrome)
Neurol 28:924-927, Pilz,H.,et al, 1978

Juvenile Neuroaxonal Dystrophy:Clinical, Electrophysiological, & Neuropathological Features
Ann Neurol 3:419, Dorfman,L.J.,et al, 1978

Clinical Pathological Conference
Neuronal Veroid-lipfuscinosis, Juvenile Variant, (Batten's disease) , NEJM 299:189., , 1978

Chronic Hexosaminidase A & B Deficiency
et al. , Ann Neurol 2:156977., Goldie,W.D., 1977

Diagnosis of Fabry's Disease by Tear-Galactosidase A-Correspondence NEJM 290:57
1974., , 1974

Niemann-Pick Disease
Correspondence NEJM 289:590, Dacremont,G.,et al, 1973

Tay-Sachs Disease-The Use of Tears for the Detection of Heterozygotes
NEJM 289:1072, Carmody,P.,et al, 1973

Progressive Paresis of Vertical Gaze in Lipid Storage Disease
Neurol 21:896, Grover,W., 1971

Prenatal Genetic Diagnosis
NEJM 283:1370, Milunsky,A.,et al, 1970

Abnormal Head Size, In Neurology In Pediatrics
(Ed) , 1970 Year Book Med. Publishers, p. 61., Bray,P.F., 1970

Hysterical Hemiplegia and Hemianesthesia
Postgrad Med 31:339-345, Magee,K.R., 1962

Cerebellar Ataxia in Children
Handout & References., Gilbert,J.J., 1850

Mucormycosis
NEJM 394:684-698, Kontoyiannia,D.P. & Walsh, T.J., 2026

Treatment for Brain Metastases with Stereotactic Radiation vs Hippocampal-Avoidance Whole Brain Radiation, A Randomzid Clinical Trial
JAMA doi.10.1001/JAMA.2026.0076;2026, Aizer,A.A.,et al, 2026

Unilateral Primary Angiitis of the Central Nervous System: A Rare and Under-Recognized Entity
AJNR 47:589-595, Rai,P.,et al, 2026

Brain CT for Diagnosis of Intracranial Disease in Ambulatory Patients with Cancer:Assessment of the Diagnostic Value of Scanning without Contrast Prior to With Contrast
AJNR 47:694-698, Wang,E.,et al, 2026

A 49-Year-Old Man with Meningoencephalitis and Persistent Altered Mental Status
Neurol 106:e214777, Hariswar,P.T.,et al, 2026

Polymyalgia Rheumatica
NEJM 394:1097-1109, Dejaco,C.,et al, 2026

Iatrogenic Cerebral Amyloid Angiopathy after Cardiac Surgery, Two Case Reports
Neurol 106:e214819, Brunet de Courssou,J-B.,et al, 2026

Clinical Manifestations of Primary CNS T-Cell Lymphoma, Retrospective Study of Histopathologic, Molecular, and Neuroimaging Fetures
Neurol 106:e24744, Muller,K.J.,et al, 2026

Patterns and Factors Associated with Cerebral Infarction on MRi in Tuberculous Meningitis: Secondary Anlysis of the ACT-TBM Trial
Stroke 57:856-864, Chandu,M.,et al, 2026

Syphilis as an Important Modern-Day Risk Factor for Intracranial Vasculopathy and Ischemic Stroke:A Teaching Case
Stroke 57:e108-e111, Higham-Kessler,C.,et al, 2026

Cerebral Amyloid Angiopathy
NEJM 394:1836-1845, Greenberg,S.M., 2026

A 28-Year-Old Man with Seizures and Thalamic Lesions
Neurol 106:e218065, Santos-Rojo,A.B.,et al, 2026

A 35-Year-Old Patient with Rapidly Progressive Ascending Weakness Leading to Loss of Brainstem Reflexes
Neurol 106:e218059, Lyons,H.J.,et al, 2026

Creutzfeldt-Jakob-Like Presentation in Anti-AMPAR Encephalitis
Ann Neurol 99:1466-1467, Durbano,K.et al, 2026

Cerebral Syphilitic Vasculitis Presenting with Recurrent Stroke
Stroke 57:e197-e198, Yilmaz,E.,et al, 2026

Congenital Zika Syndrome
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A 41-Year-Old Man with Steroid-Responsive Hemiparesis
Neurol 106:e214088, Obaidi,Z.A.,et al, 2026

Reversible Leukoencephalopathy and Parkinsonism Due to CNS Involvement in Cryoglobulinemia
Neurol 106:e214622, German,A.,et al, 2026

Progressive Quadriparesis and Falls in a 66-Year-Old Man With Longstanding Human Immunodeficiency Virus
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Clinicopathologic Conference, Disseminated Infection with Hypervirulent Klebsiella Pneumoniae
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Clinicopathologic Conference, Lyme Neuroborreliosis and Coinfection with Babesia Microti
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Showing articles 100 to 150 of 7891 << Previous Next >>