Neudle.com: hereditary diffuse leukoencephalopathy

Differential
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abdominal distention

abulia

adrenoleukodystrophy, adult onset

adrenoleukodystrophy, carrier

adrenomyeloneuropathy

adult polyglucosan body disease

adult-onset leukodystrophy, with neuroaxonal spheroids

advances in neurology

affect, inappropriate

Aicardi-Goutieres syndrome

akinetic mute

Alexanders disease

Alexanders disease, adult onset

angiitis, granulomatous of CNS

angiitis, isolated of CNS

ataxia telangiectasia

attention deficit disorder with hyperactivity

atypical

auditory evoked brainstem potentials

autonomic dysfunction

bacterial infection, CNS

basal ganglia

basal ganglia, calcification of

basal ganglia, degeneration

basal ganglia, infarction

basal ganglia, lesion of

basal ganglia, lesion, bilateral

bone marrow transplantation

brucellosis, nervous system involvement with

bulbar palsy

cachexia

CAG repeats

calcification, intracranial

calcification, intracranial, rim

calcifications, intracranial, punctate

CAT scan, contrast enhanced

CAT scan, demyelinating disease

CAT scan, emission

CAT scan, emission, abnormal

CAT scan, isodense lesion with acute hemorrhage

CAT scan, serial

cataracts

cataracts, congenital

central nervous system, infection of

cerebellar ataxia, autosomal recessive

cerebellar ataxia, children

cerebellar ataxia, hereditary

cerebellar atrophy, primary

cerebellar atrophy, secondary

cerebellar degeneration

cerebellar lesion

cerebral atherosclerosis

cerebral autosomal dominate arteriopathy with subcortical infarction and leukoencephalopathy

cerebral autosomal recessive arteriopathy with subcortical infarction and leukoencephalopathy

cerebral cortex

cerebral cortical atrophy

cerebral infarction

cerebral infarction, small, deep

cerebral infarction, subcortical

cerebral ischemia

cerebral peduncle

cerebral vasculature

cerebral vasculature, calcification

cerebrospinal fluid

cerebrospinal fluid, abnormal

cerebrospinal fluid, elevated protein of

cerebrospinal fluid, protein of

cerebrovascular accident

cerebrovascular accident, familial occurrence

cerebrovascular accident, genetic

cerebrovascular accident, location of

cerebrovascular accident, multiple

cerebrovascular accident, recurrent

cerebrovascular accident, young adult

cerebrovascular disease

Charcot-Marie-Tooth

chilbran skin lesions

children

choreoathetosis

chromosomal abnormality

Clinical Pathologic Conference(C.P.C.)

compression neuropathy

corpus callosum, infarction of

corpus callosum, lesion of

corpus callosum, thinning

cortical blindness

cranial neuropathy, multiple

creatine phosphokinase(CPK)elevated

cry, weak

crying, pathologic

cryopyrin-associated periodic syndrome

cryptorchidism

cultured skin fibroblasts

degenerative diseases of CNS

Dejerine-Sottas syndrome

delayed dentition

dementia

dementia, cerebrovascular disease causing

dementia, childhood

dementia, familial

dementia, frontal lobe type

dementia, presenile

dementia, rapidly progressive

dementia, subcortical

demyelinating disease

dentate nuclei

dentate nuclei, lesion of

dentatorubral-pallidoluysian atrophy

depression

developmental milestones, loss of

developmental retardation

diagnostic criteria

diarrhea

diet

differential diagnosis

dysarthria-clumsy hand syndrome

enzyme, muscle disease

epicanthal folds

episodic disorders

episodic neurologic deficits

evoked potentials

exome sequencing

extraocular muscle lesion

eye movement, disorders of

eye, pain in

eyes, sunken

Fabry's disease

facial appearance, abnormal

fatty acid dehydrogenase deficiency

feeding disorder

fever

fever, recurrent

flow study, carotid artery

foot deformity

Fragile-X associated tremor/ataxia-syndrome

fragile-X syndrome

fragile-X syndrome, carrier

Friedreich's ataxia

frontal bossing

frontal lobe, anatomy and physiology

frontal lobe, lesion of

frontal lobe, pathologic signs of

gastrointestinal disease, neurologic complications

gastrointestinal motility

genetic diagnosis, prenatal

genetic linkage

genetic neurologic disorders

genetic screening

genetic testing

genu of corpus callosum

globus pallidus, lesion of, bilateral

glycogen storage disease

glycosyltransferase

gram negative rod

granular osmiphilic material

hemiparesis, transient

hemophagocytic lymphohistiocytosis

hemophagocytic lymphohistiocytosis, cerebromeningeal

hepatolenticular degeneration(Wilson's disease)

heralding manifestation

hiccoughs

hormone replacement

HTRA1 gene

human immunodeficiency virus type 1

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

hyperactivity

hyperpigmentation of skin

hyperpyrexia, CNS disorder causing

hyperreflexia

hypertrophic intracranial pachymeningitis

hypotension, systemic

inborn errors of metabolism

inborn errors of metabolism, screening

inclusion bodies

inclusion bodies, intracytopasmic

inclusion bodies, intranuclear

inclusion bodies, ubiquitin

incontinentia pigmenti

incoordination

intellectual deficit

intellectual deterioration

intelligence quotient

interferon alpha

intestinal pseudoobstruction

intracerebral hemorrhage

intrauterine

intrinsic hand muscles, wasting of

irritability

Jewish

Kearns-Sayre syndrome

leg weakness, bilateral

Leigh's disease

lenticular nucleus, lesion of

lenticular nucleus, lesion of, bilateral

leukocyte enzyme abnormality

leukodystrophy

leukodystrophy, pigmented orthochromatic

leukoencephalopathy

leukoencephalopathy with calcification and cysts

leukoencephalopathy, adult onset, sporadic

leukoencephalopathy, differential diagnosis

leukoencephalopathy, hereditary diffuse

maple syrup urine disease

Marinesco-Sjogren syndrome

MELAS syndrome

memory, defect of recent

memory, impairment of

meningeal enhancement

meningitis, aseptic

meningitis, brucellosis

mental retardation

metabolic acidosis

metachromatic leukodystrophy

metachromatic leukodystrophy, adult onset

metachromatic leukodystrophy, juvenile

methylmalonic aciduria

microangiopathy, brain

microcephaly

microdontia

microhemorrhage, intracerebral

midbrain, lesion of

middle cerebellar peduncle

middle cerebellar peduncle, lesion

middle cerebellar peduncle, lesion, bilateral

mitochondrial disease

mitochondrial encephalomyopathy

MRI, CAT scan compared to

MRI, contrast enhanced

MRI, diffusion tensor

MRI, diffusion weighted

MRI, disappearing lesion on

MRI, false negative

MRI, FLAIR

MRI, gradient-echo

MRI, high signal foci on

MRI, susceptibility weighted

MRI, target sign

MRS

multiple sclerosis

multiple sclerosis, differential diagnosis of

multiple sclerosis, familial

multiple sclerosis, misdiagnosis

multiple system atrophy

muscle biopsy

muscle weakness, proximal

muscular dystrophy

muscular dystrophy, classification

muscular dystrophy, congenital

muscular dystrophy, differential diagnosis of

myelination of nervous system

myelitis, longitudinal

myelopathy, chronic progressive

nerve conduction studies

nerve root enhancement

neuroaxonal dystrophy

neuroaxonal leukodystrophy

neurocutaneous disease

neuroendocrinology

neurogenic bladder

neuroichthyosis

neurologic complications of, systemic disease

neurologic disease

neurologic disease, diagnoses of

neurologic examination

neuromuscular disease, electrodiagnosis of

neuromyelitis optica (Devic's disease)

neuromyelitis optica spectrum disorder

neuromyelitis optica, IgG

neuronal intranuclear inclusion disease

neuropathology

neuropathology, brain

neuropathy

neuropathy, demyelinating

neuropathy, hereditary peripheral

neuropathy, peripheral

neuropathy, sensory

next-generation sequencing

oculodentodigital dysplasia

old age, neurology of

ophthalmoplegia

optic ataxia

optic atrophy

optic atrophy, bilateral

optic neuritis

optic neuritis, bilateral

optic neuropathy

overlap syndrome

owl's eye sign of spinal cord

palmoplantar keratoderma

paralysis

paralysis, recurrent

paraparesis

paraparesis, familial spastic

paraparesis, spastic

paraparesis, spastic, tropical

Parkinson disease

Parkinson disease, arteriosclerotic

Parkinsonism syndrome

PAS positive

PAS positive material in the brain

photosensitivity, skin

pigmentary retinopathy

pleocytosis of cerebrospinal fluid

poison, neurologic problems with

POLR3B

polyglucosan body

polyglucosan body disease

polymerase chain reaction

polyneuropathy

pons, lesion of

posterior fossa, lesion of

posterior leukoencephalopathy syndrome

pregnancy, neurologic complications in

prenatal

prenatal diagnosis by amniocentesis

prevention of neurologic disorders

primary familial brain calcification

prognosis

progressive neurologic disorder

propionic aciduria

proximal myotonic myopathy

pseudobulbar palsy

pseudohypoparathyroidism

pseudoxanthoma elasticum

psychiatric problems in neurologic disorders

psychological testing

psychological testing, children

psychological testing, neurologic problems

psychomotor retardation

psychosis

psychotic behavior

ptosis

pupil, dilated, bilateral

pupil, dilated, episodic

putamen, lesion of, bilateral

pyramidal

pyramidal tract

pyramidal tract dysfunction

quadriparesis

quadriplegia

quadriplegia, transient

reversible neurologic disorder

saccadic eye movements, abnormal

seizure, drug resistance

self-mutilation

sensorineural hearing loss

sensory loss

short stature

Sjogren-Larsson syndrome

skin, biopsy

skin, darkening of

skin, lesions in neurologic disorders

skull bone, thickening

small vessel disease

small vessel disease, cerebral

somatosensory evoked potentials

spastic diplegia

spasticity

speech disorder, childhood

spinal cord, lesion of

spinocerebellar ataxia

splenium of corpus callosum

spondylolysis

spondylosis

spongy degeneration of brain

spontaneous remission

staggering

startle reaction

stem cell transplantation

steroid therapy, CNS treatment and complications with

stooped posture

striatum, lesion of

striopallidodentate calcifications, familial idiopathic

strokelike episodes

subarachnoid hemorrhage

subcortical U fibers

subdural hematoma

substantia nigra

succinate dehydrogenase deficiency

sural nerve

symmetric brain lesions

teeth, number of in infants

temporal lobe, lesion, bilateral

testicular biopsy

thalamus, lesion of

thalamus, lesion of-bilateral

titubation

tomaculous neuropathy

tongue, biting

transient ischemic attack

transient neurologic deficit

treatment of neurologic disorder

trinucleotide repeats

umbilical-cord blood transplantation

unconsciousness

unconsciousness, transient

urea-cycle enzymopathies

urinary incontinence

urine test for metabolic disorders

vanishing white matter

vasculitides

vasculopathy

very long chain fatty acids

vibratory sensation, abnormal

visceral neuropathy

vision loss, sequential

visual acuity, decreased

visual loss

visual loss, progressive

visual loss, slow

visual loss, sudden

vitamin E deficiency

walking, difficulty with

water channel antibodies

weakness

weakness, generalized

weakness, progressive

weaning from respirator, failure to

wheelchair

white matter disease

white matter disease, location

white matter disease, pattern

white matter disease, subcortical

white matter disease, unilateral

workup

writing

X-linked neuropathy

Showing articles 50 to 100 of 2939 << Previous Next >>

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
UpToDate (www.uptodate.com) Aug 21, Dichgans,M.,et al., 2007

CT and MR Imaging of Neuroaxonal Leukodystrophy Presenting as Early-Onset Frontal Dementia
AJNR 27:1037-1039, Mascalchi,M.,et al, 2006

Fragile X Premutation With Atypical Symptoms at Onset
Arch Neurol 63:1135-1138, Cellini,E.,et al, 2006

Central Nervous System Involvement in Hereditary Neuropathy With Liability to Pressure Palsies
Arch Neurol 62:1911-1914, Sanahuja,J.,et al, 2005

Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005

Migraine and Cerebral White Matter Lesions
The Neurologist 11:19-29, Gladstone,J.P. &Dodick,D.W., 2005

Unusual Variants of Alexander's Disease
Ann Neurol 57:327-338, van der Knaap,M.S., et al, 2005

Neurobrucellosis:Clinical and Neuroimaging Correlation
AJNR 25:395-401, Al-Sous,M.W.,et al, 2004

CADASIL: Cerebral Autosomal Subcortical Infarcts and Leukoecephalopathy
, Chabriat, H., Joutel A., Vahedi, K., Tournier-Lasserve, &E., Bousser M.G., 2004

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Pract Neurology 4:50-55, Razvi,S.S.M. &Muir,K.W., 2004

The CNS Phenotype of X-Linked Charcot-Marie-Tooth Disease
Neurol 61:1475-1478, Taylor,R.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

Adult-Onset Leukoencephalopathy with Vanishing White Matter Presenting with Dementia
Ann Neurol 50:665-668, Prass,K.,et al, 2001

De Novo Mutation in the Notch3 Gene Causing CADASIL
Ann Neurol 47:388-391, Joutel,A.,et al, 2000

Autosomal Dominant Diffuse Leukoencephalopathy with Neuroaxonal Spheroids
Neurol 54:463-468, van der Knaap,M.S.,et al, 2000

Distribution of Cranial MRI Abnormalities in Patients with Symptomatic and Subclinical CADASIL
BJR 73:256-265, Coulthard, A.,et al, 2000

Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
Neurol 52:1345-1352,1307, Van Domburg,P.H.M.F.,et al, 1999

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

Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
NEJM 338:1119-1126, Krivit,W.,et al, 1998

CADASIL in a North American Family:Clinical, Pathological, and Radiologic Findings
Neurol 51:844-849, Desmond,D.W.,et al, 1998

Idiopathic Granulomatous Angiitis of the CNS Manifesting as Diffuse White Matter Disease
Neurol 49:1696-1699, Finelli,P.F.,et al, 1997

Adult-Onset Krabbe Disease with Mutation in the Galactocerebrosidase Gene, MRI of Corticospinal Tract Demyelin
Neurol 49:1392-1399, Satoh,J.-I.,et al, 1997

Proximal Myotonic Myopathy with MRI White Matter Abnormalities of the Brain
Neurol 48:33-37, Hund,E.,et al, 1997

Adult-Onset Krabbe's Disease in Siblings with Novel Mutations in the Galactocerebrosidase Gene
Ann Neurol 41:111-114, Bernardini,G.L.,et al, 1997

Progressive Familial Leukodystrophy of Late Onset
Neurol 46:429-434, Knopman,D.,et al, 1996

Cognitive and Brain Magnetic Resonance Imaging Findings in Adrenomyeloneuropathy
Ann Neurol 40:675-678, Edwin,D.,et al, 1996

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

Autosomal Dominant Migraine with MRI White-Matter Abnormalities Mapping to the CADASIL Locus
Neurol 45:1086-1091, Chabriat,H.,et al, 1995

X-Linked Pure Familial Spastic Paraparesis
Arch Neurol 52:665-669, Cambi,F.,et al, 1995

Clinical Spectrum of CADASIL:A Study of 7 Families
Lancet 346:934-939, Chabriat,H.,et al, 1995

New Phenotype of the Cerebral Autosomal Dominant Arteriopathy Mapped to Chromosome 19:Migraine as the Prominent Clinical Feature
JNNP 59:579-585, Verin,M.,et al, 1995

Cranial MR in Wilson Disease:Abnormal White Matter in Extrapyramidal and Pyramidal Tracts
AJNR 16:2021-2027, van Wassenaer-van Hall,H.N.,et al, 1995

Hereditary Leukoencephalopathy and Palmoplantar Keratoderma:A New Disorder with Increased Skin Collagen Content
Neurol 45:331-337, Lossos,A.,et al, 1995

Brain MRI and Electrophysiologic Abnormalities in Preclinical and Clinical Adrenomyeloneuropathy
Neurol 42:85-91, Aubourg,P.,et al, 1992

Recurrent Encephalopathy and Seizures in a US Native with HTLV-I-Associated Myelopathy/Tropical Spastic Paraparesis
Neurol 42:658-661, Smith,C.R.,et al, 1992

Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992

Use of CT, MRI, & Localized 1H MR Spectroscopy in Canavan's Disease:A Case Report
Ann Neurol 30:106-110, Marks,H.G.,et al, 1991

Globoid Cell Leukodystrophy:A Family with Both Late-Infantile and Adult Type
Neurol 41:1382-1384, Verdru,P.,et al, 1991

The Marinesco-Sjogren Syndrome Examined by CT, MR, and 18F-2-Fluoro-2-Deoxy-D-Glucose & PET
Arch Neurol 47:1239-1242, Bromberg,M.B.,et al, 1990

Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudo-Obstruction:POLIP Syndrome
Ann Neurol 28:349-360, Simon,L.T.,et al, 1990

MRI in Cockayne Syndrome Type 1
Neuroradiology 31:276-277, Boltshauser,E.,et al, 1989

Adult-Onset Adrenoleukodystrophy Manifesting as Dementia
Am J Med 87:481-483, Panegyres,P.K.,et al, 1989

MR Imaging of the Brain in Myelopathy Associated with Human T-Cell Lymphotropic Virus Type I
J Comput Assist Tomogr 12:750-754, Hara,Y.,et al, 1988

MR Imaging of Pelizaeus-Merzbacher Disease
J Comput Assist Tomogr 11:591-593, Penner,M.W.,et al, 1987

Magnetic Resonance Imaging in Pelizaeus-Merzbacher Disease
Neuroradiology 29:403-405, Journel,H.,et al, 1987

Metachromatic Leukodystrophy Manifesting as a Schizophrenic Disorder:Computed Tomographic Correlation
Ann Neurol 18:94-95, Finelli,P.F., 1985

Clinicopathological Conference Metachromatic Leukodystrophy (juvenile type)
Case 7-1984, NEJM 310:445-4551984., , 1984

Adrenoleukodystrophy. Report of Two Cases With Relapsing & Remitting Courses
Arch Neurol 37:448-450, Walsh,R., 1980

CT Scanning & Diagnosis of Adrenoleukodystrophy
Neurol 27:884, Greenberg,H.S.,et al, 1977

Showing articles 50 to 100 of 2939 << Previous Next >>