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Article

Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1.

Brain & development - 1 Jan 2021

Kalmár Tibor, Maróti Zoltán, Zimmermann Alíz, Sztriha László

Abstract excerpt

BACKGROUND: The ALDH18A1 gene is located at 10q24.1 and encodes delta-1-pyrroline-5-carboxylate synthetase (P5CS), a mitochondrial bifunctional enzyme that catalyzes the first two steps in de novo biosynthesis of proline, ornithine, citrulline, and arginine. ALDH18A1-related disorders have been classified into four groups, such as autosomal dominant and recessive hereditary spastic paraplegia (SPG9A and SPG9B,...

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PMID: 32798076
DOI: 10.1016/j.braindev.2020.07.015

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