Coexistence of Hereditary Spastic Paraplegia Type 4 and Narcolepsy: A Case Report.

Abstract

Spastic paraplegia type 4 (SPG4) is the most common type of hereditary spastic paraplegia (HSP) caused by the mutations in the SPAST gene, which encodes a microtubule-severing protein named spastin. Spastin regulates the number and mobility of microtubules and is essential for axonal outgrowth and neuronal morphogenesis. Herein, we report a patient with SPG4 harboring a novel donor splice site mutation in the SPAST gene (c.1616+1dupG). Although SPG4 usually manifests itself as a pure form of HSP, this patient exhibited a slow progressive cognitive decline and also developed narcolepsy type 2 (narcolepsy without cataplexy) prior to the onset of SPG4. Recently, cognitive decline has attracted attention as a main non-motor symptom of SPG4. However, this is the first reported case of a patient developing both SPG4 and narcolepsy, although it remains unclear whether the manifestation of the two diseases is a coincidence or an association. In this report, we describe the clinical symptoms and genetic background of the patient.

• Authors: Takahiro Nagai, Yoko Sunami, Risa Kato, Megumi Sugai, Makoto Takahara, Kentaro Ohta, Hidehiko Fujinaka, Kiyoe Goto, Osamu Okanura, Takashi Nakajima, Tetsuo Ozawa
• Journal: Case reports in neurology (Case Rep Neurol) 2021 Jan-Apr Vol. 13 Issue 1 Pg. 84-91 ISSN: 1662-680X [Print] Switzerland
• PMID: 33708099 (Publication Type: Case Reports)
• Copyright: Copyright © 2021 by S. Karger AG, Basel.