Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Videos

Childhood ataxia with diffuse central nervous system hypomyelination

R Schiffmann¹, J R Moller, B D Trapp

¹Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892.

Annals of Neurology

|March 1, 1994

Summary

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Reply to 'Letter to the Editor regarding "Timing of radiotherapy (RT) after radical prostatectomy (RP): long-term outcomes in the RADICALS-RT trial [NCT00541047]", by C. C. Parker et al.'

Annals of oncology : official journal of the European Society for Medical Oncology·2024

Same author

Timing of radiotherapy (RT) after radical prostatectomy (RP): long-term outcomes in the RADICALS-RT trial (NCT00541047).

Annals of oncology : official journal of the European Society for Medical Oncology·2024

Same author

Declines in Pregnancies among U.S. Adolescents from 2007 to 2017: Behavioral Contributors to the Trend.

Journal of pediatric and adolescent gynecology·2022

Same author

RADICALS-HD: Reflections before the Results are Known.

Clinical oncology (Royal College of Radiologists (Great Britain))·2022

Same author

Corrigendum to Addition of docetaxel to hormonal therapy in low- and high-burden metastatic hormone sensitive prostate cancer: long-term survival results from the STAMPEDE trial: Ann Oncol 2019; 30: 1992-2003.

Annals of oncology : official journal of the European Society for Medical Oncology·2020

Same author

Addition of docetaxel to hormonal therapy in low- and high-burden metastatic hormone sensitive prostate cancer: long-term survival results from the STAMPEDE trial.

Annals of oncology : official journal of the European Society for Medical Oncology·2019

Diagnosing progressive leukodystrophy remains challenging. This study identifies a unique magnetic resonance spectroscopic imaging profile in white matter, aiding diagnosis of this rare neurological disorder.

Area of Science:

Neurology
Biochemistry
Neuroimaging

Background:

Progressive leukodystrophies are a group of rare genetic disorders affecting white matter, often lacking definitive diagnoses.
A significant number of patients present with progressive ataxic diplegia of unknown etiology, highlighting diagnostic challenges.

Observation:

Four unrelated girls presented with normal development until ages 1.5-5 years, followed by progressive ataxic diplegia.
Neuroimaging revealed diffuse white matter abnormalities; dementia and peripheral neuropathy were absent.
Brain biopsies showed hypomyelination, demyelination, and gliosis, with reduced myelin-specific proteins and lipids.

Findings:

Patients exhibited a unique magnetic resonance spectroscopic imaging profile characterized by decreased N-acetylaspartic acid, choline, and creatine exclusively in white matter.

Related Experiment Videos

Immunocytochemistry and Western blot analysis confirmed reduced quantities of myelin-specific proteins.

Lipid analysis revealed a decrease in characteristic myelin lipids.

Implications:

The distinct magnetic resonance spectroscopic imaging signature offers a potential diagnostic biomarker for this specific clinicopathological syndrome.
This finding could lead to earlier and more accurate diagnosis of previously undiagnosed progressive leukodystrophies.
Further research into the underlying mechanisms of this white matter disorder is warranted.