Neudle.com: lipid storage disorder of CNS

Differential
(Click to cross reference)

abdominal cramps

acid maltase deficiency

acid maltase deficiency, adult

acral sensory symptoms

adrenoleukodystrophy

adrenomyeloneuropathy

anterior horn cell disease

anterior tibial muscle weakness

antiviral agents

Arnold Chiari malformation

arthropathy

arthropathy, neuropathic

arylsulfatase A

aspartate aminotransferase

aspiration

asymptomatic

ataxia

ataxia telangiectasia

ataxia, cerebellar

ataxia, progressive

athetosis

attention deficit disorder with hyperactivity

attention span

autonomic dysfunction

axonal spheroid

Babinski sign

basal ganglia, lesion of

basal ganglia, lesion, bilateral

basilar impression

behavioral disorder

blindness

blood dyscrasias, neurologic findings with

bone marrow biopsy

bone marrow transplantation

brain atrophy

brain biopsy

brain biopsy, complications of

brain biopsy, false negative

brain biopsy, indication

brainstem, infarction of

burning feet

burning feet, differential diagnosis of

CAT scan, false negative

cataplexy

cataracts

cerebellar ataxia, children

cerebellar ataxia, children, differential diagnosis of

cerebellar infarction

cerebral cortical atrophy

cerebral ischemia

cerebrospinal fluid, gammaglobulin of

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

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

consanguinity

contractures, joint

cornea, abnormal

cornea, opacification in infancy-causes of

cornea, opacity of

corneal dystrophy

corpus callosum

corpus callosum, hypoplastic

corpus callosum, lesion of

creatine phosphokinase(CPK)elevated

creatinine, elevated

cry, abnormal

cultured skin fibroblasts

cystinosis

degenerative diseases of CNS

delay in diagnosis

dementia

dementia, childhood

dementia, diagnostic evaluation of

developmental disability

developmental milestones, loss of

developmental retardation

diarrhea

differential diagnosis

difficulty going down stairs

diplopia

distal muscle weakness

drooling

dropped head syndrome

electroencephalogram, abnormalities of

episodic neurologic deficits

exercise intolerance

exome sequencing

eye movement, disorders of

Fabry's disease

facial appearance, abnormal

gaze palsy, supranuclear

genetic diagnosis, prenatal

genetic neurologic disorders

genetic screening

glucocerebrosidase

glycogen storage disease

hemorrhagic diathesis

hepatic failure

hepatitis

hepatolenticular degeneration(Wilson's disease)

hepatomegaly

hepatosplenomegaly

hexosaminidase-A

hexosaminidase-A and B

inborn errors of metabolism

inborn errors of metabolism, screening

inclusion bodies, intracytopasmic

incoordination

infection, recurrent

intellectual deficit

intellectual deterioration

intelligence quotient

intrathecal medication

Jakob-Creutzfeldt disease

jaundice

Jewish

klippel feil syndrome

Krabbe's disease

kyphoscoliosis, neurologic causes of

lactic acidemia

lead poisoning

learning disability, in children

Leigh's disease

leukocyte enzyme abnormality

leukodystrophy

Lewy body disease, diffuse

life expectancy

lipid storage disorder of CNS

liver disease

lymphadenopathy

lysosomal storage disease

lysosomes, abnoral

macrocephaly

Marinesco-Sjogren syndrome

megalencephaly

memory, impairment of

meningitis, chronic

mental retardation

metabolic disorder, primary

metabolic disorder, primary-screening tests

metachromatic leukodystrophy

metachromatic leukodystrophy, adult onset

misdiagnosis

mitral valve prolapse

movement disorder, extrapyramidal

MRI

MRI, abnormal

MRI, hypointense signal foci on

MRS

mucopolysaccharidoses

multiple sclerosis

multiple sclerosis, differential diagnosis of

muscle biopsy

muscle spasm

muscle wasting, diffuse

muscle weakness

muscular dystrophy, Duchenne

myelopathy

myocardial infarction

myoclonus

myopathy

N-acetyl-L-aspartic acid

neoplasm, primary of CNS

neuraminidase deficiency

neuroaxonal dystrophy

neuroaxonal dystrophy, infantile

neurofibrillary degeneration

neurolipidosis IV

neurologic complications of, systemic disease

neurologic disease

neurologic disease, diagnoses of

neurologic testing

neuronal ceroid-lipofuscinosis

neuroophthalmology

neuropathic pain scale

neuropathology

neuropathy

neuropathy, demyelinating

neuropathy, painful

neuropathy, small-fiber

neuropathy, small-fiber, painful sensory

optokinetic nystagmus, abnormal

osteopetrosis

pain

pain, neuropathic

Parkinsonism syndrome

paroxysmal neurologic deficits

polymerase chain reaction

polyneuropathy

Pompe's disease of glycogen storage

precipitating factors

preclinical

prenatal diagnosis by amniocentesis

prevention of neurologic disorders

prognosis

progressive neurologic disorder

proteinuria

psychiatric problems in neurologic disorders

psychological testing

psychological testing, children

psychomotor retardation

remote effect of cancer on the nervous system

renal failure

respiratory failure

respiratory tract infection

scoliosis, neurologic association with

seizure, laughing as manifestation

sensorineural hearing loss

short stature

sick sinus syndrome

skin, biopsy

skin, lesions in neurologic disorders

slit lamp examination

small vessel disease

spasticity

speech, delayed development of

sphingomyelin

spinal cord, compression of

spinocerebellar degeneration

splenomegaly

startle reaction

stem cell transplantation

thalamus, lesion of-bilateral

thrombocytopenia

toe walking

tone, muscle, increased

tongue, enlarged

treatment of neurologic disorder

tremor

tremor, intention

tripping

urea-cycle enzymopathies

urinary sulfatidase excretion

urine test for metabolic disorders

vasculopathy

ventricular enlargement

vertebral-basilar insufficiency

vertigo

vision, failure of in childhood

visual acuity, decreased

visual fields, constricted

visual loss

visual loss, transient

Von Hippel Lindau

walking, delayed

walking, difficulty with

Showing articles 50 to 100 of 19890 << Previous Next >>

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

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

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

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

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

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

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

A 42-year-old Woman with Progressive Cognitive Difficulties and Gait Imbalance
Neurol 94:e1219-e1226, Slama, M.C.C.,et al, 2020

Clinicopathologic Conference, Statin-Associated Autoimmune Myopathy
NEJM 381:275-283, Case 22-2019, 2019

Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
Ther Adv Neurol Disord 12:1-15, Angelini, C.,et al, 2019

Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
Neurol 90:e1827-e1831, Xiao, F.,et al, 2018

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
AJNR 39:1657-1661, Codjia, P.,et al, 2018

A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
Neurol 88:e185-e189, Vazquez do Campo, R.,et al, 2017

A Case of Statin-Associated Autoimmune Myopathy
Clin Med Insights: Case Reports 10:1-4, Sweidan, A.J.,et al, 2017

Statin-Associated Autoimmune Myopathy
NEJM 374:664-669, Mammen, A.L., 2016

Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 972, Ropper, A.H.,et al, 2014

Progressive Neuropsychiatric Symptoms and Motor Impairment
JAMA Neurol 71:794-798, Ghadiri, M.,et al, 2014

The Spectrum of Statin Myopathy
Curr Opin Rheumatol 25:747-752, Mohassel, P. & Mammen, A.L., 2013

Clinical Reasoning: A Woman with Rapidly Progressive Apraxia
Neurol 80:e162-e165, Pressman, P.,et al, 2013

Sporadic Cerebral Amyloid Angiopathy Revisited: Recent Insights Into Pathophysiology and Clinical Spectrum
JNNP 83:124-137, Charidimou,A.,et al, 2012

Statins and Intracerebral Hemorrhage
Arch Neurol 69:39-45,13, Hackam,D.G,et al, 2012

Clinicopathologic Conference,Necrotizing Noninflammatory Myopathy Consistent with Exposure to Statins
NEJM 36:944-954, Case 7-2012, 2012

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

Toxic and Drug-Induced Myopathies
JNNP 80:832-838, Dalakas,M.C., 2009

Insights into the Dynamics of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids
Neurol 71:925-929, Van Gerpen,J.A.,et al, 2008

A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008

Statin Use and the Risk of Parkinson Disease
Neurol 70:1418-1422, Wahner,A.D.,et al, 2008

What Do We Really See When We Look at Magnetic Resonance Images?
Ann Neurol 62:207-208, Filippi,M. &Hartung,H.-P., 2007

Statin-Associated Myasthenia Gravis
Medicine 85:82-85, Purvin,V.,et al, 2006

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

Underappreciated Statin-Induced Myopathic Weakness Causes Disability
Neurorehabil Neural Repair 19:259-263, Dobkin,B.H., 2005

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

Diffusion-Weighted and Conventional MR Imaging Findings of Neuroaxonal Dystrophy
AJNR 25:1269-1273, Sener,R.N., 2004

Statin-Associated Myopathy
JAMA 289:1681-1690, Thompson,P.D.,et al, 2003

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

Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
Neurol 52:1472-1478, Nardocci,N.,et al, 1999

HIV-Protease Inhibitors
NEJM 338:1281-1292, Flexner,C., 1998

Guillain-Barre Syndrome after Exogenous Gangliosides in Italy
BMJ 307:1463-1464, Landi,G.,et al, 1993

GM-1 Ganglioside for Spinal-Cord Injury
NEJM 326:493, Schonhofer,P.S., 1992

Bovine Gangliosides and Acute Motor Polyneuropathy
BMJ 305:1330-1331, Figueras,A.,et al, 1992

Gangliosides and Neurological Diseases, Their Use in Humans Should be Suspended
BMJ 305:1309-1310, Behan,P.O., 1992

Muscle Carnitine Deficiency in Patients Using Valproic Acid
J Pediatr 118:646-649, Shapira,Y.&Gutman,A., 1991

Chronic Cardiomyopathy and WEakness or Acute Coma in Children with a Defect in Carnitine Uptake
Ann Neurol 30:709-716, Stanley,C.A.,et al, 1991

Cholesterol-Lowering Agent Myopathy (CLAM)
Neurol 41:1159-1160, London,S.F.,et al, 1991

Showing articles 50 to 100 of 19890 << Previous Next >>