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

Journal of the Peripheral Nervous System : JPNS
Moritz OberstadtPetra Baum

Abstract

Distal hereditary motor neuropathy (dHMN) type II is genetically heterogeneous. We report three 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 one 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. After 5 years this patient developed an l-DOPA-responsive hypokinetic rigid syndrome, establishing a diagnosis of Parkinson's disease. Although none of the three 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.

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Citations

Jan 31, 2018·Journal of the Peripheral Nervous System : JPNS·Hajime TanabeHiroshi Takashima
Oct 4, 2017·Brain : a Journal of Neurology·Elias AdriaenssensVincent Timmerman
Apr 18, 2020·Cell Stress & Chaperones·Lydia K MuranovaNikolai B Gusev
Jul 9, 2020·Journal of the Peripheral Nervous System : JPNS·Arens Taga, David R Cornblath
Dec 27, 2016·Frontiers in Molecular Biosciences·Vincenzo LupoCarmen Espinós
Apr 24, 2020·Cell Stress & Chaperones·Leen VendredyVincent Timmerman

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