Clinical Presentation and Natural History of Infantile-Onset Ascending Spastic Paralysis From Three Families With an Als2 Founder Variant

Clinical Presentation and Natural History of Infantile-Onset Ascending Spastic Paralysis From Three Families With an Als2 Founder Variant Publisher Pubmed

Helal M¹ ; Mazaheri N^{2, 3} ; Shalbafan B⁴ ; Malamiri RA⁵ ; Dilaver N⁶ ; Buchert R⁷ ; Mohammadiasl J^{8, 9} ; Golchin N⁹ ; Sedaghat A^{3, 10} ; Mehrjardi MYV^{11, 12} ; Haack TB⁷ ; Riess O⁷ ; Chung WK^{1, 13} ; Galehdari H² Show All Authors

Helal M¹
Mazaheri N^{2, 3}
Shalbafan B⁴
Malamiri RA⁵
Dilaver N⁶
Buchert R⁷
Mohammadiasl J^{8, 9}
Golchin N⁹
Sedaghat A^{3, 10}
Mehrjardi MYV^{11, 12}
Haack TB⁷
Riess O⁷
Chung WK^{1, 13}
Galehdari H²
Shariati G^{3, 8}
Maroofian R¹⁴

Show Affiliations

1. Department of Pediatrics, Division of Molecular Genetics, Columbia University Medical Center, 1150 St. Nicholas Avenue, Room 620, New York, 10032, NY, United States
2. Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran
3. Narges Medical Genetics and Prenatal Diagnosis Laboratory, East Mihan Ave., Kianpars, Ahvaz, Iran
4. Iranian Social Security Organization, Tehran University of Medical Sciences, Tehran, Iran
5. Department of Paediatric Neurology, Golestan Medical, Educational, and Research Centre, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
6. Swansea University Medical School, Swansea University, Swansea, SA2 8PP, United Kingdom
7. Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, 72074, Germany
8. Department of Genetics, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
9. Ahvaz Noor Genetics Laboratory, Ahvaz, Iran
10. Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
11. Medical Genetics Research Centre, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
12. Diabetes Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
13. Departments of Medicine, Columbia University Medical Center, 1150 St. Nicholas Avenue, Room 620, New York, 10032, NY, United States
14. Molecular and Clinical Sciences Institute, St Georgeâ€™s University of London, Cranmer Terrace, London, SW17 0RE, United Kingdom

Source: Neurological Sciences Published:2018

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. © 2018, The Author(s).

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Style	Citing Format
MLA	Helal M, et al.. "Clinical Presentation and Natural History of Infantile-Onset Ascending Spastic Paralysis From Three Families With an Als2 Founder Variant." Neurological Sciences, vol. 39, no. 11, 2018, pp. 1917-1925.
APA	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. Neurological Sciences, 39(11), 1917-1925.
Chicago	Helal M, Mazaheri N, Shalbafan B, Malamiri RA, Dilaver N, Buchert R, Mohammadiasl J, et al.. "Clinical Presentation and Natural History of Infantile-Onset Ascending Spastic Paralysis From Three Families With an Als2 Founder Variant." Neurological Sciences 39, no. 11 (2018): 1917-1925.
Harvard	Helal M et al. (2018) 'Clinical Presentation and Natural History of Infantile-Onset Ascending Spastic Paralysis From Three Families With an Als2 Founder Variant', Neurological Sciences, 39(11), pp. 1917-1925.
Vancouver	Helal M, Mazaheri N, Shalbafan B, Malamiri RA, Dilaver N, Buchert R, et al.. Clinical Presentation and Natural History of Infantile-Onset Ascending Spastic Paralysis From Three Families With an Als2 Founder Variant. Neurological Sciences. 2018;39(11):1917-1925.
BibTex	@article{ author = {Helal M and Mazaheri N and Shalbafan B and Malamiri RA and Dilaver N and Buchert R and Mohammadiasl J and Golchin N and Sedaghat A and Mehrjardi MYV and Haack TB and Riess O and Chung WK and Galehdari H and Shariati G and Maroofian R}, title = {Clinical Presentation and Natural History of Infantile-Onset Ascending Spastic Paralysis From Three Families With an Als2 Founder Variant}, journal = {Neurological Sciences}, volume = {39}, number = {11}, pages = {1917-1925}, year = {2018} }
RIS	TY - JOUR AU - Helal M AU - Mazaheri N AU - Shalbafan B AU - Malamiri RA AU - Dilaver N AU - Buchert R AU - Mohammadiasl J AU - Golchin N AU - Sedaghat A AU - Mehrjardi MYV AU - Haack TB AU - Riess O AU - Chung WK AU - Galehdari H AU - Shariati G AU - Maroofian R TI - Clinical Presentation and Natural History of Infantile-Onset Ascending Spastic Paralysis From Three Families With an Als2 Founder Variant JO - Neurological Sciences VL - 39 IS - 11 SP - 1917 EP - 1925 PY - 2018 ER -

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