Ontology highlight
ABSTRACT:
SUBMITTER: Lagrand TJ
PROVIDER: S-EPMC7590769 | biostudies-literature | 2020 Sep-Dec
REPOSITORIES: biostudies-literature
Lagrand Tjerk Joppe TJ Hageman Gerard G
Case reports in neurology 20200901 3
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 ...[more]