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Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

26 Oct 2015

Abstract excerpt

BACKGROUND: Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. Different therapeutic agents are under development, and clinical evaluation of drug candidates will require a standardized...

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PMID: 26502900
DOI: 10.1186/s13023-015-0358-y

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