Hereditary Spastic Paraplegia Mimicking Cerebral Palsy-Heterozygous Mutation in ALDH18A1

Spastic paraplegias are characterised by progressive rigidity and weakness of the lower limbs. Spastic paraplegia is a standard differential diagnosis for spastic diplegic cerebral palsy. Hereditary Spastic Paraplegias (HSP) are genetically and clinically heterogeneous group of neurodegenerative d...

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Autores principales:	Amit S Vatkar, Nisha Dolas, Vedashree Deshpande, Pallavi Wadhawan, Mumtaz Sharif
Formato:	article
Lenguaje:	EN
Publicado:	JCDR Research and Publications Private Limited 2021
Materias:	aldehyde dehydrogenase 18 family member a1 central palsy neurodegenerative disorders Medicine R
Acceso en línea:	https://doaj.org/article/a638fe83c7294f10933bebaaf05f37ec
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spelling	oai:doaj.org-article:a638fe83c7294f10933bebaaf05f37ec2021-11-12T13:49:40ZHereditary Spastic Paraplegia Mimicking Cerebral Palsy-Heterozygous Mutation in ALDH18A110.7860/JCDR/2021/49813.153902249-782X0973-709Xhttps://doaj.org/article/a638fe83c7294f10933bebaaf05f37ec2021-09-01T00:00:00Zhttps://www.jcdr.net/articles/PDF/15390/49813_CE_GC(AnK)_F(SHU)_PF1(SG_KM_SS)_PN(KM).pdfhttps://doaj.org/toc/2249-782Xhttps://doaj.org/toc/0973-709XSpastic paraplegias are characterised by progressive rigidity and weakness of the lower limbs. Spastic paraplegia is a standard differential diagnosis for spastic diplegic cerebral palsy. Hereditary Spastic Paraplegias (HSP) are genetically and clinically heterogeneous group of neurodegenerative disorders causing paraplegias. Eighty forms of HSP have been noted and 64 genes have been identified. The Aldehyde Dehydrogenase 18 family member A1 (ALDH18A1) gene is located at 10q24.1 and it encodes delta-1-Pyrroline-5-Carboxylate Synthetase (P5CS), a mitochondrial bifunctional enzyme which is used for catalysing various amino acids. Mutations in this gene causes P5CS deficiency, which is responsible for neurodegenerative diseases. One should suspect neurometabolic conditions when no definite history of birth asphyxia is present in a case of cerebral palsy. Hereby, the authors report a case of a one-year-old male child with heterozygous mutation in ALDH18A1 gene resulting in spastic diplegia.Amit S Vatkar Nisha DolasVedashree DeshpandePallavi Wadhawan Mumtaz SharifJCDR Research and Publications Private Limitedarticlealdehyde dehydrogenase 18 family member a1central palsyneurodegenerative disordersMedicineRENJournal of Clinical and Diagnostic Research, Vol 15, Iss 9, Pp SD01-SD02 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	aldehyde dehydrogenase 18 family member a1 central palsy neurodegenerative disorders Medicine R
spellingShingle	aldehyde dehydrogenase 18 family member a1 central palsy neurodegenerative disorders Medicine R Amit S Vatkar Nisha Dolas Vedashree Deshpande Pallavi Wadhawan Mumtaz Sharif Hereditary Spastic Paraplegia Mimicking Cerebral Palsy-Heterozygous Mutation in ALDH18A1
description	Spastic paraplegias are characterised by progressive rigidity and weakness of the lower limbs. Spastic paraplegia is a standard differential diagnosis for spastic diplegic cerebral palsy. Hereditary Spastic Paraplegias (HSP) are genetically and clinically heterogeneous group of neurodegenerative disorders causing paraplegias. Eighty forms of HSP have been noted and 64 genes have been identified. The Aldehyde Dehydrogenase 18 family member A1 (ALDH18A1) gene is located at 10q24.1 and it encodes delta-1-Pyrroline-5-Carboxylate Synthetase (P5CS), a mitochondrial bifunctional enzyme which is used for catalysing various amino acids. Mutations in this gene causes P5CS deficiency, which is responsible for neurodegenerative diseases. One should suspect neurometabolic conditions when no definite history of birth asphyxia is present in a case of cerebral palsy. Hereby, the authors report a case of a one-year-old male child with heterozygous mutation in ALDH18A1 gene resulting in spastic diplegia.
format	article
author	Amit S Vatkar Nisha Dolas Vedashree Deshpande Pallavi Wadhawan Mumtaz Sharif
author_facet	Amit S Vatkar Nisha Dolas Vedashree Deshpande Pallavi Wadhawan Mumtaz Sharif
author_sort	Amit S Vatkar
title	Hereditary Spastic Paraplegia Mimicking Cerebral Palsy-Heterozygous Mutation in ALDH18A1
title_short	Hereditary Spastic Paraplegia Mimicking Cerebral Palsy-Heterozygous Mutation in ALDH18A1
title_full	Hereditary Spastic Paraplegia Mimicking Cerebral Palsy-Heterozygous Mutation in ALDH18A1
title_fullStr	Hereditary Spastic Paraplegia Mimicking Cerebral Palsy-Heterozygous Mutation in ALDH18A1
title_full_unstemmed	Hereditary Spastic Paraplegia Mimicking Cerebral Palsy-Heterozygous Mutation in ALDH18A1
title_sort	hereditary spastic paraplegia mimicking cerebral palsy-heterozygous mutation in aldh18a1
publisher	JCDR Research and Publications Private Limited
publishDate	2021
url	https://doaj.org/article/a638fe83c7294f10933bebaaf05f37ec
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Hereditary Spastic Paraplegia Mimicking Cerebral Palsy-Heterozygous Mutation in ALDH18A1

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