Paroxysmal, exercise-induced, diurnally fluctuating dystonia: expanding the phenotype of SPG8

The hereditary spastic paraplegias (HSP) are a heterogeneous group of neurodegenerative disorders characterized by length-dependent retrograde corticospinal tract degeneration, producing a clinical syndrome dominated by lower limb predominant spasticity. HSPs may display autosomal dominant, recessive, X-linked or mitochondrial inheritance1. They are frequently categorized on clinical grounds into ‘pure’ HSPs –which can have additional bladder involvement and/or mild lower limb vibration sense abnormalities-and ‘complex’ HSPs, which comprise additional features such as neuropathy, seizures, cognitive decline, parkinsonism, dystonia, deafness and amyotrophy2.

Source: Parkinsonism and Related Disorders - February 16, 2021 Category: Neurology Authors: Eoin Mulroy, Francesca Magrinelli, Nor Amelia Mohd Fauzi, Shahedah Koya Kutty, Anna Latorre, Kailash P. Bhatia Tags: Correspondence Source Type: research