POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome.
Hyperintensities in the middle cerebellar peduncles (MCP), known as the MCP sign, and progressive late-onset ataxia constitute major characteristics of the fragile X tremor/ataxia syndrome (FXTAS). Here, we describe a 60-year-old male affected by ataxia due to biallelic mutations in the mitochondrial polymerase gamma (POLG) gene in which hyperintensities of the middle cerebellar peduncles (MCP) were found. The initial suspicion of FXTAS was however ruled out by a normal CGG expansion size in the FMR1 gene. We discuss the features of late-onset POLG-A as a phenocopy of FXTAS.
['Paucar|Martin|M|', 'Engvall|Martin|M|', 'Gordon|Lisa|L|', 'Tham|Emma|E|', 'Synofzik|Matthis|M|', 'Svenningsson|Per|P|']
D001259:Ataxia D001921:Brain D000074002:DNA Polymerase gamma D004259:DNA-Directed DNA Polymerase D003937:Diagnosis, Differential D051860:Fragile X Mental Retardation Protein D006801:Humans D008297:Male D008875:Middle Aged
MCP sign FXTAS POLG