Rajith de Silva

TL;DR: Beta-propeller protein-associated neurodegeneration, the only X-linked disorder of neurodegenersation with brain iron accumulation, is associated with de novo mutations in WDR45 and is recognizable by a unique combination of clinical, natural history and neuroimaging features.

TL;DR: Genetic testing using targeted capture followed by next-generation sequencing was efficient, cost-effective, and enabled a molecular diagnosis in many refractory cases and has broad implications for clinical neurology practice and the approach to diagnostic testing.

TL;DR: The first heteroplasmic mitochondrial DNA (mtDNA) point mutation (3376G>A) in the MTND1 gene associated with an overlap syndrome comprising the clinical features of both LHON and MELAS is reported.

TL;DR: The aim of this article is to review the literature relating to LRRK2 G2019S in the North African population, which is composed of two main ethnic groups – the Berbers and the Arabs, and to draw a clear distinction between the two ethnic groups, despite the distinct possibility that their ancestral origins are different.

TL;DR: These guidelines aim to assist HCPs when caring for patients with progressive ataxia, indicate evidence-based and best practice, and act overall as a useful resource for clinicians involved in managing ataxic patients.