Helal, M;
Mazaheri, N;
Shalbafan, B;
Malamiri, RA;
Dilaver, N;
Buchert, R;
Mohammadiasl, J;
Golchin, N;
Sedaghat, A;
Mehrjardi, MYV;
et al.
Helal, M; Mazaheri, N; Shalbafan, B; Malamiri, RA; Dilaver, N; Buchert, R; Mohammadiasl, J; Golchin, N; Sedaghat, A; Mehrjardi, MYV; Haack, TB; Riess, O; Chung, WK; Galehdari, H; Shariati, G; Maroofian, R
(2018)
Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.
Neurol Sci, 39 (11).
pp. 1917-1925.
ISSN 1590-3478
https://doi.org/10.1007/s10072-018-3526-8
SGUL Authors: Maroofian, Reza
Abstract
Biallelic mutations of the alsin Rho guanine nucleotide exchange factor (ALS2) gene cause a group of overlapping autosomal recessive neurodegenerative disorders including infantile-onset ascending hereditary spastic paralysis (IAHSP), juvenile primary lateral sclerosis (JPLS), and juvenile amyotrophic lateral sclerosis (JALS/ALS2), caused by retrograde degeneration of the upper motor neurons of the pyramidal tracts. Here, we describe 11 individuals with IAHSP, aged 2-48 years, with IAHSP from three unrelated consanguineous Iranian families carrying the homozygous c.1640+1G>A founder mutation in ALS2. Three affected siblings from one family exhibit generalized dystonia which has not been previously described in families with IAHSP and has only been reported in three unrelated consanguineous families with JALS/ALS2. We report the oldest individuals with IAHSP to date and provide evidence that these patients survive well into their late 40s with preserved cognition and normal eye movements. Our study delineates the phenotypic spectrum of IAHSP and ALS2-related disorders and provides valuable insights into the natural disease course.
Item Type: |
Article
|
Additional Information: |
© The Author(s) 2018
Open Access
This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. |
Keywords: |
ALS2, Alsin, IAHSP, Infantile-onset ascending hereditary spastic paralysis, Natural history, 1103 Clinical Sciences, 1109 Neurosciences, Neurology & Neurosurgery |
SGUL Research Institute / Research Centre: |
Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) |
Journal or Publication Title: |
Neurol Sci |
ISSN: |
1590-3478 |
Language: |
eng |
Dates: |
Date | Event |
---|
November 2018 | Published | 21 August 2018 | Published Online | 5 August 2018 | Accepted |
|
Publisher License: |
Creative Commons: Attribution 4.0 |
PubMed ID: |
30128655 |
![](http://static.pubmed.gov/portal/portal3rc.fcgi/2745237/img/27842) |
Go to PubMed abstract |
URI: |
https://openaccess.sgul.ac.uk/id/eprint/110392 |
Publisher's version: |
https://doi.org/10.1007/s10072-018-3526-8 |
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