Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46.

We report clinical, genetic and brain imaging findings in two siblings with hereditary spastic paraparesis. One sister presented with juvenile-onset leg spasticity and progressed to spastic tetraparesis, cervical and jaw opening dystonia, pseudobulbar symptoms and dementia. The other sister initially developed cervical dystonia in adulthood followed by gait spasticity and cognitive decline in the disease course. Molecular genetic testing revealed novel compound heterozygous variants in GBA2 in both sisters. The initial presentation with cervical dystonia and the differing clinical disease progression expand the clinical phenotype of GBA2 associated SPG46. PMID: 32590105 [PubMed - as supplied by publisher]
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research