Article
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).
Cerebellum (London, England) - 1 Aug 2021
Pettinato Fabio, Mostile Giovanni, Battini Roberta, Martinelli Diego, Madeo Annalisa, Biamino Elisa, Frattini Daniele, Garozzo Domenico, Gasperini Serena, Parini Rossella, Sirchia Fabio, Sortino Giuseppe, Sturiale Luisa, Matthijs Gert, Morrone Amelia, Di Rocco Maja, Rizzo Renata, Jaeken Jaak, Fiumara Agata, Barone Rita
Abstract excerpt
We aimed to identify clinical, molecular and radiological correlates of activities of daily living (ADL) in patients with cerebellar atrophy caused by PMM2 mutations (PMM2-CDG), the most frequent congenital disorder of glycosylation. Twenty-six PMM2-CDG patients (12 males; mean age 13 ± 11.1 years) underwent a standardized assessment to measure ADL, ataxia (brief ataxia rating scale, BARS) and phenotype severity...
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