A family with mitochondrial inheritance of multiple system atrophy of the cerebellar subtype. MRI brain shows significant cerebellar atrophy with mild pontine atrophy and the classical hot cross bun sign in Pons. The muscle biopsy was indicative of mitochondrial myopathy. Mitochondrial DNA analysis revealed a low-level large mtDNA deletion, m.3264_1607del12806 bp.

1Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo, São Paulo SP, Brazil; 2Department of Radiology, Universidade Federal de São Paulo and Delboni Auriemo, Diagnósticos da América, São Paulo SP, Brazil. Correspondence: José Luiz Pedroso; Rua Botucatu 740; 04023-900 São Paulo SP Brazil; E-mail: [email protected] Conflict of interest: There is no conflict of interest ...