Bibliographic Details
| Title: |
Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature |
| Authors: |
Lorenzo Nanetti, Daniela Di Bella, Stefania Magri, Mario Fichera, Elisa Sarto, Anna Castaldo, Alessia Mongelli, Silvia Baratta, Silvia Fenu, Marco Moscatelli, Maria Teresa Bonati, Andrea Martinuzzi, Caterina Mariotti, Franco Taroni |
| Source: |
Frontiers in Neurology, Vol 12 (2022) |
| Publisher Information: |
Frontiers Media S.A., 2022. |
| Publication Year: |
2022 |
| Collection: |
LCC:Neurology. Diseases of the nervous system |
| Subject Terms: |
cerebellar ataxia, spastic paraplegia, hypogonadotropic hypogonadism, chorioretinal dystrophy, Gordon Holmes syndrome, Boucher Neuhauser syndrome, Neurology. Diseases of the nervous system, RC346-429 |
| More Details: |
A wide spectrum of neurodegenerative diseases has been associated with pathogenic variants in the PNPLA6 (patatin-like phospholipase domain-containing protein 6) gene, including spastic paraplegia type 39, Gordon—Holmes, Boucher—Neuhauser, Oliver—Mc Farlane, and Laurence—Moon syndromes. These syndromes present variable and overlapping clinical symptoms, encompassing cerebellar ataxia, hypogonadotropic hypogonadism, chorioretinal dystrophy, spastic paraplegia, muscle wasting, peripheral neuropathy, and cognitive impairment. In the present study, we performed a wide genetic screening in 292 patients presenting with ataxia or spastic paraplegia using a probe-based customized gene panel, covering >200 genes associated with spinocerebellar diseases. We identified six novel and four recurrent PNPLA6 gene variants in eight patients (2.7%). Six patients presented an infantile or juvenile onset (age |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
1664-2295 |
| Relation: |
https://www.frontiersin.org/articles/10.3389/fneur.2021.793547/full; https://doaj.org/toc/1664-2295 |
| DOI: |
10.3389/fneur.2021.793547 |
| Access URL: |
https://doaj.org/article/8957f548cd91461c8ea823ea37956d21 |
| Accession Number: |
edsdoj.8957f548cd91461c8ea823ea37956d21 |
| Database: |
Directory of Open Access Journals |
