Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype.

CONCLUSIONS: Genetic analysis along with thorough clinical analysis supported by radiological findings will aid the differential diagnosis of MPAN within the neurodegeneration with brain iron accumulation spectrum as well as other disorders including hereditary spastic paraplegia. Dystonia and parkinsonism may not be the leading clinical findings in MPAN patients, as these are absent in the atypical case. Finally, we emphasise that the existence of frameshifting variants may bias the age of onset toward childhood.
PMID: 31804703 [PubMed - as supplied by publisher]

Source: Neurologia i Neurochirurgia Polska - December 4, 2019 Category: Neurology Authors: Akçakaya NH, Haryanyan G, Mercan S, Sozer N, Ali A, Tombul T, Ozbek U, Uğur İşeri SA, Yapıcı Z Tags: Neurol Neurochir Pol Source Type: research