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17-11-2022 | Spastic Paraplegia | Original article

Hereditary spastic paraplegia in Mali: epidemiological and clinical features

Authors: Salimata Diarra, Thomas Coulibaly, Kékouta Dembélé, Nyater Ngouth, Lassana Cissé, Seybou H. Diallo, Madani Ouologuem, Salimata Diallo, Oumar Coulibaly, Koumba Bagayoko, Dramane Coulibaly, Assiatou Simaga, Hammadoun A. Sango, Mahamadou Traoré, Steve Jacobson, Kenneth H. Fischbeck, Guida Landouré, Cheick O. Guinto, H3Africa consortium

Published in: Acta Neurologica Belgica | Issue 6/2023

Abstract

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.

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Title: Hereditary spastic paraplegia in Mali: epidemiological and clinical features
Authors: Salimata Diarra
Thomas Coulibaly
Kékouta Dembélé
Nyater Ngouth
Lassana Cissé
Seybou H. Diallo
Madani Ouologuem
Salimata Diallo
Oumar Coulibaly
Koumba Bagayoko
Dramane Coulibaly
Assiatou Simaga
Hammadoun A. Sango
Mahamadou Traoré
Steve Jacobson
Kenneth H. Fischbeck
Guida Landouré
Cheick O. Guinto
H3Africa consortium
Publication date: 17-11-2022
Publisher: Springer International Publishing
Keyword: Spastic Paraplegia
Published in: Acta Neurologica Belgica / Issue 6/2023
Print ISSN: 0300-9009
Electronic ISSN: 2240-2993
DOI: https://doi.org/10.1007/s13760-022-02113-w

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Springer Medicine

Hereditary spastic paraplegia in Mali: epidemiological and clinical features

Abstract

Background and purpose

Methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background and purpose

Methods

Results

Conclusion

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