A novel variant in the spatacsin gene causing SPG11 in a Malian family

•Hereditary spastic paraplegia type 11 is a rare complex neurodegenerative disease.•A novel homozygote deletion variant in the spatacsin gene in a Malian patient.•Although SPG11 is not reported in sub-Saharan Africa, it may not be uncommon.•While infectious and traumatic causes of spinal injury are...

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Veröffentlicht in:	Journal of the neurological sciences 2020-04, Vol.411, p.116675-116675, Article 116675
Hauptverfasser:	Landouré, Guida, Dembélé, Kékouta, Diarra, Salimata, Cissé, Lassana, Samassékou, Oumar, Bocoum, Abdoulaye, Yalcouyé, Abdoulaye, Traoré, Moussa, Fischbeck, Kenneth H., Guinto, Cheick O.
Format:	Artikel
Sprache:	eng
Schlagworte:	Clinical Neurology Humans Life Sciences & Biomedicine Mutation - genetics Neurosciences Neurosciences & Neurology Proteins - genetics Science & Technology Spastic Paraplegia, Hereditary - genetics
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Zusammenfassung:	•Hereditary spastic paraplegia type 11 is a rare complex neurodegenerative disease.•A novel homozygote deletion variant in the spatacsin gene in a Malian patient.•Although SPG11 is not reported in sub-Saharan Africa, it may not be uncommon.•While infectious and traumatic causes of spinal injury are most common in sub-Saharan Africa, genetic causes should also be investigated.
ISSN:	0022-510X 1878-5883
DOI:	10.1016/j.jns.2020.116675