A Pyramidal Cause of a Cerebellar Ataxia: HSP-7

Tjerk Joppe Lagrand; Gerard Hageman

doi:10.1159/000509346

A Pyramidal Cause of a Cerebellar Ataxia: HSP-7

Case Rep Neurol. 2020 Oct 2;12(3):329-333. doi: 10.1159/000509346. eCollection 2020 Sep-Dec.

Authors

Tjerk Joppe Lagrand¹, Gerard Hageman²

Affiliations

¹ Department of Neurology, University Medical Centre Groningen, Groningen, The Netherlands.
² Department of Neurology, Medical Spectrum Twente, Enschede, The Netherlands.

Abstract

A 43-year-old man presented with a slowly progressive fatigue and coordination problems, coupled with a radiological appearance of diffuse atrophy, especially in the cerebellar hemispheres. The diagnostic process was challenging because initially the additional investigations were focused on a cerebellar ataxia. In the following months, his ataxic gait developed in a more spastic pattern and whole exome sequencing revealed mutations in the SPG7 gene, confirming a diagnosis of hereditary spastic paraplegia. Therefore, the authors call for an extension of genetic panels in ataxia patients.

Keywords: Ataxia; Hereditary spastic paraparesis; SPG7.

Publication types

Case Reports