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Article

SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report.

BMC neurology - 11 Feb 2021

Koh Kishin, Takaki Ryusuke, Ishiura Hiroyuki, Tsuji Shoji, Takiyama Yoshihisa

Abstract excerpt

BACKGROUND: ALDH18A1 mutations lead to delta-1-pyrroline-5-carboxylate-synthetase (P5CS) deficiency, which is a urea cycle-related disorder including SPG9A, SPG9B, autosomal dominant cutis laxa-3 (ADCL3), and autosomal recessive cutis laxa type 3A (ARCL3A). These diseases exhibit a broad clinical spectrum, which makes the diagnosis of P5CS deficiency difficult. We report here a rare Japanese family including both...

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PMID: 33573605
DOI: 10.1186/s12883-021-02087-x
PMCID: PMC7876803

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