A Pyramidal Cause of a Cerebellar Ataxia: HSP-7

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.

Non‐invasive electrical stimulation in patients with neurodegenerative ataxia and spasticity: A systematic review and meta‐analysis of randomized controlled trials

“…Examples of shared pathways underlying neurodegenerative ataxia and spasticity include genes involved in the metabolism of phospholipids and sphingolipids, as well as autophagy‐lysosomal activity [4]. Spastic ataxia has also been reported in case reports [27,28] and constitutes a rising clinical entity, for which interventions remain poorly studied [5]. Our findings highlight NES as a promising intervention that can potentially alleviate both spastic and ataxia symptoms in these patients.…”