Hypomyelination with atrophy of the basal ganglia and cerebellum: Follow-up and pathology

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

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


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.

Original languageEnglish
Pages (from-to)166-171
Number of pages6
Issue number2
Publication statusPublished - Jul 2007

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