A Novel Homozygous Variant in the Mcoln1 Gene Associated With Severe Oromandibular Dystonia and Parkinsonism

A Novel Homozygous Variant in the Mcoln1 Gene Associated With Severe Oromandibular Dystonia and Parkinsonism Publisher Pubmed

Ghasemi A^{2, 3} ; Eslami Ardakani M⁴ ; Togha M⁴ ; Yazdi N⁵ ; Lang AE^{6, 7, 8} ; Amini E^{5, 9} ; Rohani M⁵ ; Alavi A^{2, 3}

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1. University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
2. Genetics research center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
3. Neuromuscular Research Center, Tehran University of Medical Sciences, Tehran, Iran
4. Neurology Ward, Sina Hospital, School of Medicine, Tehran University of Medical Sciences, Iran
5. Department of Neurology, Rasool Akram Hospital, School of Medicine, Iran University of Medical Sciences, Tehran, Iran
6. Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada
7. Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital and Division of Neurology, Toronto, ON, Canada
8. Krembil Brain Institute, University Health Network, Toronto, ON, Canada
9. Skull Base Research Center, The Five Senses Health Institute Iran University of Medical Sciences, Tehran, Iran

Source: Canadian Journal of Neurological Sciences Published:2024

Abstract

Background: Mucolipidosis type IV (MLIV) is a rare, progressive lysosomal storage disorder characterized by severe intellectual disability, delayed motor milestones, and ophthalmologic abnormalities. MLIV is an autosomal recessive disease caused by mutations in the MCOLN1 gene, encoding mucolipin-1 which is responsible for maintaining lysosomal function. Objectives and Methods: Here, we report a family of four Iranian siblings with cognitive decline, progressive visual and pyramidal disturbances, and abnormal movements manifested by severe oromandibular dystonia and parkinsonism. MRI scans of the brain demonstrated signal abnormalities in the white matter and thinning of the corpus callosum. Results and Conclusions: Whole-exome sequencing (WES) identified a novel homozygous variant, c.362C

Style	Citing Format
MLA	Ghasemi A, et al.. "A Novel Homozygous Variant in the Mcoln1 Gene Associated With Severe Oromandibular Dystonia and Parkinsonism." Canadian Journal of Neurological Sciences, vol. , no. , 2024, pp. -.
APA	Ghasemi A, Eslami Ardakani M, Togha M, Yazdi N, Lang AE, Amini E, Rohani M, Alavi A (2024). A Novel Homozygous Variant in the Mcoln1 Gene Associated With Severe Oromandibular Dystonia and Parkinsonism. Canadian Journal of Neurological Sciences, (), -.
Chicago	Ghasemi A, Eslami Ardakani M, Togha M, Yazdi N, Lang AE, Amini E, Rohani M, Alavi A. "A Novel Homozygous Variant in the Mcoln1 Gene Associated With Severe Oromandibular Dystonia and Parkinsonism." Canadian Journal of Neurological Sciences , no. (2024): -.
Harvard	Ghasemi A et al. (2024) 'A Novel Homozygous Variant in the Mcoln1 Gene Associated With Severe Oromandibular Dystonia and Parkinsonism', Canadian Journal of Neurological Sciences, (), pp. -.
Vancouver	Ghasemi A, Eslami Ardakani M, Togha M, Yazdi N, Lang AE, Amini E, et al.. A Novel Homozygous Variant in the Mcoln1 Gene Associated With Severe Oromandibular Dystonia and Parkinsonism. Canadian Journal of Neurological Sciences. 2024;():-.
BibTex	@article{ author = {Ghasemi A and Eslami Ardakani M and Togha M and Yazdi N and Lang AE and Amini E and Rohani M and Alavi A}, title = {A Novel Homozygous Variant in the Mcoln1 Gene Associated With Severe Oromandibular Dystonia and Parkinsonism}, journal = {Canadian Journal of Neurological Sciences}, volume = {}, number = {}, pages = {-}, year = {2024} }
RIS	TY - JOUR AU - Ghasemi A AU - Eslami Ardakani M AU - Togha M AU - Yazdi N AU - Lang AE AU - Amini E AU - Rohani M AU - Alavi A TI - A Novel Homozygous Variant in the Mcoln1 Gene Associated With Severe Oromandibular Dystonia and Parkinsonism JO - Canadian Journal of Neurological Sciences VL - IS - SP - EP - PY - 2024 ER -

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