Hereditary spastic paraplegia in Mali: epidemiological and clinical features.

Autor: Diarra S; Faculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali.; Neurogenetics Branch, NINDS, NIH, Bethesda, MD, USA., Coulibaly T; Faculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali.; Service de Neurologie, CHU du Point 'G', Bamako, Mali., Dembélé K; Service de Neurologie, CHU du Point 'G', Bamako, Mali., Ngouth N; Neuroimmunology Division, NINDS, NIH, Bethesda, MD, USA., Cissé L; Service de Neurologie, CHU du Point 'G', Bamako, Mali., Diallo SH; Faculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali.; Service de Neurologie, CHU de Gabriel Touré, Bamako, Mali., Ouologuem M; Service de Médecine, Hôpital du Mali, Bamako, Mali., Diallo S; Service de Neurologie, CHU de Gabriel Touré, Bamako, Mali., Coulibaly O; Service de Chirugie Pédiatrique, CHU de Gabriel Touré, Bamako, Mali., Bagayoko K; Faculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali., Coulibaly D; Service de Médecine, CHU Mère-Enfant le 'Luxembourg', Bamako, Mali., Simaga A; Institut d'Ophtalmologie Tropicale de l'Afrique (IOTA), Bamako, Mali., Sango HA; DER de Santé Publique, Faculté de Médecine et d'Odontostomatologie, Bamako, Mali., Traoré M; Service de Cytogénétique et de la Réproduction Biologique, INSP, Bamako, Mali., Jacobson S; Neuroimmunology Division, NINDS, NIH, Bethesda, MD, USA., Fischbeck KH; Neurogenetics Branch, NINDS, NIH, Bethesda, MD, USA., Landouré G; Faculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali. glandoure@gmail.com.; Neurogenetics Branch, NINDS, NIH, Bethesda, MD, USA. glandoure@gmail.com.; Service de Neurologie, CHU du Point 'G', Bamako, Mali. glandoure@gmail.com., Guinto CO; Faculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali.; Service de Neurologie, CHU du Point 'G', Bamako, Mali.
Jazyk: angličtina
Zdroj: Acta neurologica Belgica [Acta Neurol Belg] 2023 Dec; Vol. 123 (6), pp. 2155-2165. Date of Electronic Publication: 2022 Nov 17.
DOI: 10.1007/s13760-022-02113-w
Abstrakt: Background and Purpose: Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases divided into pure and complex forms, with spasticity in lower limbs only, or associated with other neurologic and non-neurologic manifestations, respectively. Although widely reported in other populations, very little data exist in sub-Saharan Africa.
Methods: Patients with neurodegenerative features were evaluated over a 19-month period at the Department of Neurology, Teaching Hospital of Point "G", Bamako, Mali. The diagnosis of HSP was considered based on family history and the absence of other known non-genetic causes. Genetic analysis including candidate gene and whole exome sequencing was performed and variant pathogenicity was tested using prediction tools and ACMG guidelines.
Results: Of the 170 families with hereditary neurological disorders enrolled, 16 had features consistent with HSP, a frequency of 9%. The average age of onset was 14.7 years with 46% starting before age 6. The male/female ratio was 2.6:1. Complex forms were seen in 75% of cases, and pure forms in 25%. Pyramidal findings were present in all patients. Associated features included mental retardation, peripheral neuropathy, epilepsy, oculomotor impairment and urinary urgency. Most patients were treated with a muscle relaxant and physical therapy, and restorative surgery was done in one. Genetic testing identified novel variants in three families (19%).
Conclusion: This study confirms the clinical variability of HSPs and adds African data to the current literature.
(© 2022. The Author(s) under exclusive licence to Belgian Neurological Society.)
Databáze: MEDLINE
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