Late onset dHMN II caused by c.404C>G mutation in HSPB1 gene

We report 3 siblings of a German family with late onset distal motor neuropathy due to the c.404C>G mutation in heat‐shock 27‐kDa protein 1 gene (HSPB1/HSP27). A 36‐year old mutation carrier, daughter of 1 sibling, did not present any clinical or electrophysiological abnormalities. The index patient (oldest brother) developed weakness of the distal lower limbs and nocturnal muscle cramps at the age of 54 years old. Five years later this patient developed an L–DOPA‐responsive hypokinetic rigid syndrome, establishing a diagnosis of Parkinson's disease. Although none of the 3 other mutation carriers displayed Parkinsonian signs, a pathogenic relationship with Parkinson's disease remains a possibility, based on the known molecular pathology of HSPB1. The rare pathogenic HSPB1 c.404C>G mutation may predispose for late‐onset of dHMN type II.
Source: Journal of the Peripheral Nervous System - Category: Neurology Authors: Tags: CASE REPORT Source Type: research