Document Detail

Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology.
MedLine Citation:
PMID:  17620549     Owner:  NLM     Status:  MEDLINE    
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.
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
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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    
Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands.
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MeSH Terms
Atrophy / genetics,  pathology*,  physiopathology
Basal Ganglia / pathology*,  physiopathology
Basal Ganglia Diseases / genetics,  pathology,  physiopathology
Cerebellar Diseases / genetics,  pathology,  physiopathology
Cerebellum / pathology*,  physiopathology
Child, Preschool
Disease Progression
Hereditary Central Nervous System Demyelinating Diseases / genetics,  pathology*,  physiopathology
Heredodegenerative Disorders, Nervous System / genetics,  pathology*,  physiopathology
Inheritance Patterns / genetics
Magnetic Resonance Imaging
Nerve Fibers, Myelinated / pathology
Predictive Value of Tests

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