| Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology. | |
| | |
MedLine Citation:
|
PMID: 17620549 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
BACKGROUND AND OBJECTIVE: Hypomyelination with atrophy of the basal ganglia and cerebellum is a recently defined disorder. Only a few patients have been described. We report on 11 additional patients and new MRI findings and provide histopathologic confirmation of the MRI interpretation. METHODS: We reviewed the patients' clinical history and present findings. We scored the MRI abnormalities. The histopathology of one patient was re-examined. RESULTS: The patients' early psychomotor development was normal or delayed, followed by increasing extrapyramidal movement abnormalities, ataxia, and spasticity. Mental capacities were variably affected. MRI showed hypomyelination with, on follow-up, evidence of further myelin loss and variable white matter atrophy. The putamen was small or, more often, absent; the head of the caudate nucleus was decreased in size. In contrast, the thalamus and globus pallidus remained normal. Cerebellar atrophy was invariably present. Histopathology confirmed the myelin deficiency, probably related to both lack of deposition and low-grade further loss. The degeneration of putamen was subtotal. The cerebellar cortex was affected, particularly the granular layer. CONCLUSION: Hypomyelination with atrophy of the basal ganglia and cerebellum is a syndrome diagnosed by distinctive MRI findings. Histopathology confirms hypomyelination, low-grade further myelin loss, subtotal degeneration of the putamen, and cerebellar cortical atrophy. All known patients are sporadic, and the mode of inheritance is unclear. |
| | |
Authors:
|
M S van der Knaap; T Linnankivi; A Paetau; A Feigenbaum; K Wakusawa; K Haginoya; W Köhler; M Henneke; A Dinopoulos; P Grattan-Smith; K Brockmann; R Schiffmann; S Blaser |
Related Documents
:
|
2289429 - Mapping of event-related potentials to auditory and visual odd-ball paradigms. 2587929 - Somatosensory evoked potentials in spinal cord diseases. 7748359 - Median nerve somatosensory evoked potentials in children receiving ecmo. 616599 - Electrophysiological and computerised tomography findings in multiple sclerosis: a comp... 6707669 - Central nervous system involvement in optic neuritis. 7249909 - Cerebellar calcification. 20153689 - Eeg features and epilepsy in mecp2-mutated patients with the zappella variant of rett s... 2289429 - Mapping of event-related potentials to auditory and visual odd-ball paradigms. 11694859 - Which are the insulin treatment regimens used in france? the "schema survey". |
Publication Detail:
|
Type: Journal Article |
Journal Detail:
|
Title: Neurology Volume: 69 ISSN: 1526-632X ISO Abbreviation: Neurology Publication Date: 2007 Jul |
Date Detail:
|
Created Date: 2007-07-10 Completed Date: 2007-08-13 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 0401060 Medline TA: Neurology Country: United States |
Other Details:
|
Languages: eng Pagination: 166-71 Citation Subset: AIM; IM |
Affiliation:
|
Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands. ms.vanderknaap@vumc.nl |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Atrophy
/
genetics,
pathology*,
physiopathology Basal Ganglia / pathology*, physiopathology Basal Ganglia Diseases / genetics, pathology, physiopathology Cerebellar Diseases / genetics, pathology, physiopathology Cerebellum / pathology*, physiopathology Child Child, Preschool Disease Progression Female Hereditary Central Nervous System Demyelinating Diseases / genetics, pathology*, physiopathology Heredodegenerative Disorders, Nervous System / genetics, pathology*, physiopathology Humans Inheritance Patterns / genetics Magnetic Resonance Imaging Male Nerve Fibers, Myelinated / pathology Predictive Value of Tests Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Post-transplant acute limbic encephalitis: clinical features and relationship to HHV6.
Next Document: Lacunar lesions are independently associated with disability and cognitive impairment in CADASIL.