Hereditary Spastic Paraplegia Mimicking Cerebral Palsy-Heterozygous Mutation in ALDH18A1
Correspondence Address :
Dr. Vedashree Deshpande,
Ajeenkya Hostel, DY Patil Hospital, Nerul, Sector 6, Navi Mumbai, Maharashtra, India.
E-mail: vedashreedeshpande20@gmail.com
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.
Aldehyde dehydrogenase 18 family member A1, Central palsy, Neurodegenerative disorders
10.7860/JCDR/2021/49813.15390
Date of Submission: Apr 09, 2021
Date of Peer Review: Jun 07, 2021
Date of Acceptance: Jul 29, 2021
Date of Publishing: Sep 01, 2021
AUTHOR DECLARATION:
• Financial or Other Competing Interests: None
• Was informed consent obtained from the subjects involved in the study? Yes
• For any images presented appropriate consent has been obtained from the subjects. Yes
PLAGIARISM CHECKING METHODS:
• Plagiarism X-checker: Apr 10, 2021
• Manual Googling: Jul 21, 2021
• iThenticate Software: Aug 26, 2021 (14%)
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