title: Spinocerebellar ataxia 15: A phenotypic review and expansion.
abstract: Spinocerebellar ataxia 15 (SCA15) is a clinically heterogeneous movement disorder characterized by the adult onset of slowly progressive cerebellar ataxia. ITPR1 is the SCA15 causative gene. However, despite numerous reports of genetically-confirmed SCA15, phenotypic uncertainty persists. We reviewed the phenotypes of 60 patients for whom SCA15 was confirmed by the presence of a genetic deletion involving ITPR1. The most prevalent symptoms were gait ataxia (88.3%), dysarthria (75.0%), nystagmus (73.3%), and limb ataxia (71.7%). We also present a novel SCA15 phenotype in a woman with an ITPR1 variant found to have hydrocephalus that improved with ventriculoperitoneal shunting. This is the first reported case of hydrocephalus associated with SCA15. In this review, we analyzed previously reported SCA15 phenotypes and present a novel SCA15 phenotype. We also address important considerations for evaluating patients with complex hereditary movement disorders.
authors.affiliation: Department of Neurology, Mayo Clinic, Jacksonville, FL, United States. Electronic address: tipton.philip@mayo.edu.
authors.forename: Philip W
authors.initials: PW
authors.lastname: Tipton
authors.affiliation: Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL, United States. Electronic address: harris.kimberly@mayo.edu.
authors.forename: Kimberly
authors.initials: K
authors.lastname: Guthrie
authors.affiliation: Department of Neurology, Mayo Clinic, Jacksonville, FL, United States. Electronic address: Strongosky.audrey@mayo.edu.
authors.forename: Audrey
authors.initials: A
authors.lastname: Strongosky
authors.affiliation: Department of Neurosurgery, Mayo Clinic, Jacksonville, FL, United States. Electronic address: reimer.ronald@mayo.edu.
authors.forename: Ronald
authors.initials: R
authors.lastname: Reimer
authors.affiliation: Department of Neurology, Mayo Clinic, Jacksonville, FL, United States. Electronic address: Wszolek.Zbigniew@mayo.edu.
authors.forename: Zbigniew K
authors.initials: ZK
authors.lastname: Wszolek
mesh_terms: D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000209:etiology*; D008875:Middle Aged; D010641:Phenotype; D020754:Spinocerebellar Ataxias / Q000150:complications / Q000235:genetics / Q000503:physiopathology*
keywords: Autosomal dominant spinocerebellar ataxia; Complex hereditary movement disorder; Spinocerebellar ataxia type 15; Whole exome sequencing