| Yazarlar |
Nihan Hande Akçakaya
Türkiye |
|
Garen Haryanyan
Türkiye |
Dr. Öğr. Üyesi Sevcan MERCAN
Kafkas Üniversitesi, Türkiye |
|
Nejla Sozer
Türkiye |
|
Asuman Ali
Türkiye |
|
Temel Tombul
İstanbul Medeniyet Üniversitesi, Türkiye |
|
Uğur Özbek
Acıbadem Mehmet Ali Aydınlar Üniversitesi, Türkiye |
|
Sibel Aylin Uğur İşeri
İstanbul Üniversitesi, Türkiye |
|
Zühal Yapıcı
İstanbul Üniversitesi, Türkiye |
| Özet |
| 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 other hand, is characterised by progressive lower limb spasticity without brain iron accumulation. We here present clinical and genetic findings of MPAN patients with potentially pathogenic C19orf12 variants. Materials and methods. Patients from 13 different families having progressive motor symptoms with irritative pyramidal signs and brain iron accumulation were screened for C19orf12 gene variants. results. C19orf12 screening identified seven variants associated with MPAN in eight patients from seven families. We associated two pathogenic variants (c.24G > C; p.(Lys8Asn) and c.194G > A; p.(Gly65Glu)) with the MPAN phenotype for the first time. We also provided a genetic diagnosis for a patient with an atypical MPAN presentation. The variant c.32C > T; p.(Thr11Met), common to Turkish adult-onset MPAN patients, was also detected in two unrelated late-onset MPAN patients. 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. |
| Anahtar Kelimeler |
| C19orf12 | HSP | Iron accumulation | MPAN | Spastic paraplegia | SPG43 |
| Makale Türü | Özgün Makale |
| Makale Alt Türü | SSCI, AHCI, SCI, SCI-Exp dergilerinde yayımlanan tam makale |
| Dergi Adı | Neurologia i Neurochirurgia Polska |
| Dergi ISSN | 0028-3843 |
| Dergi Tarandığı Indeksler | SCI-Expanded |
| Dergi Grubu | Q4 |
| Makale Dili | İngilizce |
| Basım Tarihi | 10-2019 |
| Cilt No | 53 |
| Sayı | 6 |
| Sayfalar | 476 / 483 |
| Doi Numarası | 10.5603/PJNNS.a2019.0062 |
| Makale Linki | https://journals.viamedica.pl/neurologia_neurochirurgia_polska/article/view/64682 |
| Atıf Sayıları | |
| SCOPUS | 6 |
