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

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Title: Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.
Authors: Helal, Mayada, Mazaheri, Neda, Shalbafan, Bita, Malamiri, Reza Azizi, Dilaver, Nafi, Buchert, Rebecca, Mohammadiasl, Javad, Golchin, Neda, Sedaghat, Alireza, Mehrjardi, Mohammad Yahya Vahidi, Haack, Tobias B., Riess, Olaf, Chung, Wendy K., Galehdari, Hamid, Shariati, Gholamreza, Maroofian, Reza
Source: Neurological Sciences. Nov2018, Vol. 39 Issue 11, p1917-1925. 9p. 1 Diagram, 2 Charts.
Subjects: Neurodegeneration, Guanine nucleotide exchange factors, Spastic paralysis, Amyotrophic lateral sclerosis, Dystonia, Motor neurons, Eye movement disorders
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. [ABSTRACT FROM AUTHOR]
Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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  Data: Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.
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  Data: <searchLink fieldCode="AR" term="%22Helal%2C+Mayada%22">Helal, Mayada</searchLink><br /><searchLink fieldCode="AR" term="%22Mazaheri%2C+Neda%22">Mazaheri, Neda</searchLink><br /><searchLink fieldCode="AR" term="%22Shalbafan%2C+Bita%22">Shalbafan, Bita</searchLink><br /><searchLink fieldCode="AR" term="%22Malamiri%2C+Reza+Azizi%22">Malamiri, Reza Azizi</searchLink><br /><searchLink fieldCode="AR" term="%22Dilaver%2C+Nafi%22">Dilaver, Nafi</searchLink><br /><searchLink fieldCode="AR" term="%22Buchert%2C+Rebecca%22">Buchert, Rebecca</searchLink><br /><searchLink fieldCode="AR" term="%22Mohammadiasl%2C+Javad%22">Mohammadiasl, Javad</searchLink><br /><searchLink fieldCode="AR" term="%22Golchin%2C+Neda%22">Golchin, Neda</searchLink><br /><searchLink fieldCode="AR" term="%22Sedaghat%2C+Alireza%22">Sedaghat, Alireza</searchLink><br /><searchLink fieldCode="AR" term="%22Mehrjardi%2C+Mohammad+Yahya+Vahidi%22">Mehrjardi, Mohammad Yahya Vahidi</searchLink><br /><searchLink fieldCode="AR" term="%22Haack%2C+Tobias+B%2E%22">Haack, Tobias B.</searchLink><br /><searchLink fieldCode="AR" term="%22Riess%2C+Olaf%22">Riess, Olaf</searchLink><br /><searchLink fieldCode="AR" term="%22Chung%2C+Wendy+K%2E%22">Chung, Wendy K.</searchLink><br /><searchLink fieldCode="AR" term="%22Galehdari%2C+Hamid%22">Galehdari, Hamid</searchLink><br /><searchLink fieldCode="AR" term="%22Shariati%2C+Gholamreza%22">Shariati, Gholamreza</searchLink><br /><searchLink fieldCode="AR" term="%22Maroofian%2C+Reza%22">Maroofian, Reza</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22Neurological+Sciences%22">Neurological Sciences</searchLink>. Nov2018, Vol. 39 Issue 11, p1917-1925. 9p. 1 Diagram, 2 Charts.
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  Data: <searchLink fieldCode="DE" term="%22Neurodegeneration%22">Neurodegeneration</searchLink><br /><searchLink fieldCode="DE" term="%22Guanine+nucleotide+exchange+factors%22">Guanine nucleotide exchange factors</searchLink><br /><searchLink fieldCode="DE" term="%22Spastic+paralysis%22">Spastic paralysis</searchLink><br /><searchLink fieldCode="DE" term="%22Amyotrophic+lateral+sclerosis%22">Amyotrophic lateral sclerosis</searchLink><br /><searchLink fieldCode="DE" term="%22Dystonia%22">Dystonia</searchLink><br /><searchLink fieldCode="DE" term="%22Motor+neurons%22">Motor neurons</searchLink><br /><searchLink fieldCode="DE" term="%22Eye+movement+disorders%22">Eye movement disorders</searchLink>
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  Data: 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. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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        Value: 10.1007/s10072-018-3526-8
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