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Literature DB >> 24704789

A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis.

Hatice Koçak Eker¹, Süleyman Ersin Unlü², Fatema Al-Salmi³, Andrew H Crosby³.

Abstract

Autosomal recessive early onset forms of motor neuron disorders including infantile-onset ascending hereditary spastic paraplegia (OMIM #607225) are due to homozygous mutations in the ALS2 gene. Here, we report on a novel splice-site mutation of the ALS2 (c.2351+2C>A) in four children of a consanguineous union with infantile-onset ascending hereditary spastic paraplegia.

Entities: Chemical

Keywords: ALS2 gene; IAHSP

Mesh：

Substances：

Year: 2014 PMID： 24704789 DOI： 10.1016/j.ejmg.2014.03.006

Source DB: PubMed Journal: Eur J Med Genet ISSN： 1769-7212 Impact factor: 2.708

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Cited

7 in total

1. Novel compound heterozygous ALS2 mutations in two Chinese siblings with infantile ascending hereditary spastic paralysis.

Authors: Fei Xie; Zhi-Dong Cen; Jian-Feng Xiao; Wei Luo
Journal: Neurol Sci Date: 2014-11-30 Impact factor: 3.307

2. Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.

Authors: Mayada Helal; Neda Mazaheri; Bita Shalbafan; Reza Azizi Malamiri; Nafi Dilaver; Rebecca Buchert; Javad Mohammadiasl; Neda Golchin; Alireza Sedaghat; Mohammad Yahya Vahidi Mehrjardi; Tobias B Haack; Olaf Riess; Wendy K Chung; Hamid Galehdari; Gholamreza Shariati; Reza Maroofian
Journal: Neurol Sci Date: 2018-08-21 Impact factor: 3.307

3. Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function.

Authors: Kai Sato; Asako Otomo; Mahoko Takahashi Ueda; Yui Hiratsuka; Kyoko Suzuki-Utsunomiya; Junya Sugiyama; Shuji Murakoshi; Shun Mitsui; Suzuka Ono; So Nakagawa; Hui-Fang Shang; Shinji Hadano
Journal: J Biol Chem Date: 2018-09-17 Impact factor: 5.157

A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis.

1. Novel compound heterozygous ALS2 mutations in two Chinese siblings with infantile ascending hereditary spastic paralysis.

2. Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.

3. Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function.

4. Absence of alsin function leads to corticospinal motor neuron vulnerability via novel disease mechanisms.

5. A new bioinformatic insight into the associated proteins in psychiatric disorders.

Review 6. Is amyotrophic lateral sclerosis/frontotemporal dementia an autophagy disease?

Review 7. The emerging role of guanine nucleotide exchange factors in ALS and other neurodegenerative diseases.