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

Neurologia i neurochirurgia polska - 1 Jan 2019

Akçakaya Nihan Hande, Haryanyan Garen, Mercan Sevcan, Sozer Nejla, Ali Asuman, Tombul Temel, Ozbek Ugur, Uğur İşeri Sibel Aylin, Yapıcı Zuhal

Abstract excerpt

INTRODUCTION: Pathogenic variations in C19orf12 are responsible for two allelic diseases: mitochondrial membrane protein-associated neurodegeneration (MPAN); and spastic paraplegia type 43 (SPG43). MPAN is an orphan disease, which presents with spasticity, dystonia, peripheral nerve involvement, and dementia. The pattern of iron accumulation on brain MRI may be a clue for the diagnosis of MPAN. SPG43, on the...

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PMID: 31804703
DOI: 10.5603/PJNNS.a2019.0062

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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