Description of Combined Arhsp/Jals Phenotype in Some Patients With Spg11 Mutations

Description of Combined Arhsp/Jals Phenotype in Some Patients With Spg11 Mutations Publisher Pubmed

Khani M¹ ; Shamshiri H² ; Fatehi F² ; Rohani M³ ; Haghi Ashtiani B⁴ ; Akhoundi FH⁴ ; Alavi A⁵ ; Moazzeni H¹ ; Taheri H¹ ; Ghani MT¹ ; Javanparast L⁵ ; Hashemi SS⁵ ; Hajiseyedjavadi R⁶ ; Heidari M⁴ Show All Authors

Khani M¹
Shamshiri H²
Fatehi F²
Rohani M³
Haghi Ashtiani B⁴
Akhoundi FH⁴
Alavi A⁵
Moazzeni H¹
Taheri H¹
Ghani MT¹
Javanparast L⁵
Hashemi SS⁵
Hajiseyedjavadi R⁶
Heidari M⁴
Nafissi S²
Elahi E¹

Show Affiliations

1. School of Biology, College of Science, University of Tehran, Tehran, Iran
2. Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran
3. Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran
4. Department of Neurology, Firoozgar Hospital, Iran University of Medical Sciences, Tehran, Iran
5. Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
6. Department of Radiation Oncology, Emory University School of Medicine, Atlanta, GA, United States

Source: Molecular Genetics and Genomic Medicine Published:2020

Abstract

Background: SPG11 mutations can cause autosomal recessive hereditary spastic paraplegia (ARHSP) and juvenile amyotrophic lateral sclerosis (JALS). Because these diseases share some clinical presentations and both can be caused by SPG11 mutations, it was considered that definitive diagnosis may not be straight forward. Methods: The DNAs of referred ARHSP and JALS patients were exome sequenced. Clinical data of patients with SPG11 mutations were gathered by interviews and neurological examinations including electrodiagnosis (EDX) and magnetic resonance imaging (MRI). Results: Eight probands with SPG11 mutations were identified. Two mutations are novel. Among seven Iranian probands, six carried the p.Glu1026Argfs*4-causing mutation. All eight patients had features known to be present in both ARHSP and JALS. Additionally and surprisingly, presence of both thin corpus callosum (TCC) on MRI and motor neuronopathy were also observed in seven patients. These presentations are, respectively, key suggestive features of ARHSP and JALS. Conclusion: We suggest that rather than ARHSP or JALS, combined ARHSP/JALS is the appropriate description of seven patients studied. Criteria for ARHSP, JALS, and combined ARHSP/JALS designations among patients with SPG11 mutations are suggested. The importance of performing both EDX and MRI is emphasized. Initial screening for p.Glu1026Argfs*4 may facilitate SPG11 screenings in Iranian patients. © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC

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Style	Citing Format
MLA	Khani M, et al.. "Description of Combined Arhsp/Jals Phenotype in Some Patients With Spg11 Mutations." Molecular Genetics and Genomic Medicine, vol. 8, no. 7, 2020, pp. -.
APA	Khani M, Shamshiri H, Fatehi F, Rohani M, Haghi Ashtiani B, Akhoundi FH, Alavi A, Moazzeni H, Taheri H, Ghani MT, Javanparast L, Hashemi SS, Hajiseyedjavadi R, Heidari M, Nafissi S, Elahi E (2020). Description of Combined Arhsp/Jals Phenotype in Some Patients With Spg11 Mutations. Molecular Genetics and Genomic Medicine, 8(7), -.
Chicago	Khani M, Shamshiri H, Fatehi F, Rohani M, Haghi Ashtiani B, Akhoundi FH, Alavi A, et al.. "Description of Combined Arhsp/Jals Phenotype in Some Patients With Spg11 Mutations." Molecular Genetics and Genomic Medicine 8, no. 7 (2020): -.
Harvard	Khani M et al. (2020) 'Description of Combined Arhsp/Jals Phenotype in Some Patients With Spg11 Mutations', Molecular Genetics and Genomic Medicine, 8(7), pp. -.
Vancouver	Khani M, Shamshiri H, Fatehi F, Rohani M, Haghi Ashtiani B, Akhoundi FH, et al.. Description of Combined Arhsp/Jals Phenotype in Some Patients With Spg11 Mutations. Molecular Genetics and Genomic Medicine. 2020;8(7):-.
BibTex	@article{ author = {Khani M and Shamshiri H and Fatehi F and Rohani M and Haghi Ashtiani B and Akhoundi FH and Alavi A and Moazzeni H and Taheri H and Ghani MT and Javanparast L and Hashemi SS and Hajiseyedjavadi R and Heidari M and Nafissi S and Elahi E}, title = {Description of Combined Arhsp/Jals Phenotype in Some Patients With Spg11 Mutations}, journal = {Molecular Genetics and Genomic Medicine}, volume = {8}, number = {7}, pages = {-}, year = {2020} }
RIS	TY - JOUR AU - Khani M AU - Shamshiri H AU - Fatehi F AU - Rohani M AU - Haghi Ashtiani B AU - Akhoundi FH AU - Alavi A AU - Moazzeni H AU - Taheri H AU - Ghani MT AU - Javanparast L AU - Hashemi SS AU - Hajiseyedjavadi R AU - Heidari M AU - Nafissi S AU - Elahi E TI - Description of Combined Arhsp/Jals Phenotype in Some Patients With Spg11 Mutations JO - Molecular Genetics and Genomic Medicine VL - 8 IS - 7 SP - EP - PY - 2020 ER -

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