LAUSR

Idiopathic late-onset cerebellar ataxia (ILOCA) was introduced by A. Harding in 1981. The term described patients, starting around the age of 50, with slowly progressive cerebellar ataxia (CA) of unknown cause, sometimes associated with other neurologic features. Later, attempts to find a specific etiology were made and the idea that it could reflect multiple unknown sporadic and genetic pathologies emerged. Indeed, as the genetic knowledge grew, a small group of ILOCA turned out to be Friedreich’s ataxia, spinocerebellar ataxia (SCA), Fragile X premutation, Gordon Holmes syndrome, and SYNE1 mutated. However, the most late-onset CA remains idiopathic, and multiple system atrophy of cerebellar type (MSA-C) has been considered the most frequent underlying disorder. In this case report, we describe a patient with ILOCA, who was then found to have a mutation for hereditary spastic paraplegia, namely SPG7. Thus, our case report and analysis of the literature suggest that SPG7 may be an important cause underlying the MSA-C phenotype within ILOCA.