Literature DB >> 16240357

Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis.

Julia A Kress1, Peter Kühnlein, Pia Winter, Albert C Ludolph, Jan Kassubek, Ulrich Müller, Anne-Dorte Sperfeld.   

Abstract

We present a 32-year-old Turkish male with juvenile amyotrophic lateral sclerosis 2 and a previously unrecognized homozygous deletion in exon 4 of the ALS2 gene (553delA). Disease progression is more rapid than in the ALS2 phenotype cases described to date. The patient's consanguineous parents carry the mutation in the heterozygous state as do his two unaffected brothers.

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Year:  2005        PMID： 16240357     DOI： 10.1002/ana.20665

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  12 in total

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Journal:  Neurogenetics       Date:  2017-10-31       Impact factor: 2.660

2.  Amyotrophic lateral sclerosis 2-deficiency leads to neuronal degeneration in amyotrophic lateral sclerosis through altered AMPA receptor trafficking.

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Journal:  J Neurosci       Date:  2006-11-08       Impact factor: 6.167

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Review 4.  Alsin and the molecular pathways of amyotrophic lateral sclerosis.

Authors:  Jayanth Chandran; Jinhui Ding; Huaibin Cai
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5.  Regulation of endosomal motility and degradation by amyotrophic lateral sclerosis 2/alsin.

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6.  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
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Review 7.  Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.

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Journal:  Neural Plast       Date:  2017-05-28       Impact factor: 3.599

8.  Searching for ancient balanced polymorphisms shared between Neanderthals and Modern Humans.

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9.  Alsin related disorders: literature review and case study with novel mutations.

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Review 10.  Juvenile Amyotrophic Lateral Sclerosis: A Review.

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Journal:  Genes (Basel)       Date:  2021-11-30       Impact factor: 4.096
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