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OBJECTIVE To assess the prevalence, nature, and associated phenotypes of ATP13A2 gene mutations among patients with juvenile parkinsonism (onset <21 years) or young onset (between 21 and 40 years) Parkinson disease (YOPD). METHODS We studied 46 patients, mostly from Italy or Brazil, including 11 with juvenile parkinsonism and 35 with YOPD. Thirty-three(More)
To the Editor: Dominant spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases that affect the cerebellum, brain stem, and spinocerebellar tracts. SCA1, SCA2, SCA3, SCA6, SCA7, SCA12, SCA17 and dentatorubral pallidoluysian atrophy (DRPLA) are caused by CAG trinucleotide repeat expansions (1). SCA8 has a CTG expansion in the causative gene.(More)
BACKGROUND Parkinson's disease (PD) has been related to mutations associated with spinocerebellar ataxias (SCA); the frequency of the diagnosis of these mutations is low in general late-onset PD cases. Our aim was to investigate a selected high-risk group of PD patients. METHODS PD patients with autosomal dominant inheritance or atypical neurological(More)
UNLABELLED Machado-Joseph disease/spinocerebellar ataxia type 3 (MJD/SCA3) may rarely presents a parkinsonian phenotype. Considering that mutations in the glucocerebrosidase (GBA) gene have been associated with Parkinson disease, we investigated whether these would be more prevalent in MJD/SCA3 patients with parkinsonian manifestations than in those without(More)
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