Huntington disease like 2 (HDL-2) with parkinsonism and abnormal DAT-SPECT – A novel observation

Huntington's disease-like 2 (HDL-2) is an autosomal dominant neurodegenerative disorder caused by a CTG/CAG trinucleotide repeat expansion ( ≥40 repeats) in the junctophilin-3 gene on chromosome 16q24.3 [1]. The affected protein product, junctophilin-3, plays a role in anchoring the endoplasmic reticulum to the plasma membrane. The disorder generally manifests in mid-life as a Huntington's disease (HD) phenocopy syndrome comprising cog nitive decline, neuropsychiatric manifestations and movement disorders (generally chorea) [2,3].

Source: Parkinsonism and Related Disorders - January 15, 2020 Category: Neurology Authors: Eoin Mulroy, Anna Latorre, Elisa Menozzi, Pei Chiek Teh, Francesca Magrinelli, Kailash P. Bhatia Tags: Correspondence Source Type: research