Article reference Country and setting Study design and year Sample characteristics Diagnostic criteria and tools used Disease prevalence Disease risk factors and genetic determinants identified
Wilmshurst et al. [15 ] South Africa; Case-controlled studies; 30 patients: 4 SMA type 1 patients; 16 SMA type 2 patients; 10 SMA type 3 patients. All patients were black South Africans. Six horn cell disease patients were used as controls Clinical diagnosis NA Homozygous deletions of exon 7 or exons 7 and 8 of the SMN1 gene in all patients. Ekenze et al. [16 ] Nigeria; hospital-based Retrospective; 2003–2007 8440 patients: 1249 patients (640 men) suffering from neurological disorders (45 y mean age). Ten of these patients were suffering from ALS (4 were men) NA 800/100,000 NA Sangaré et al. [17 ] Mali; hospital-/laboratory-based Case-controlled studies 628 Malians, 120 Nigerians, and 120 Kenyans (healthy individuals) NA 1/209 SMA carrier frequency in the SSA patients (mostly Malians) compared to 1/30–50 in Europeans and Asians Participants had 3 or more copy numbers of SMN1 gene and lacked SMN2 compared to Europeans Osuntokun et al. [18 ] Nigeria; hospital-based Retrospective; 1958–1973 92 patients with MND: 73 ALS, 9 SMA, and 10 PMA ENMG, muscle biopsy 21/100,000 NA Stevens et al. [14 ] South Africa; hospital-based Case study series 29 SMA patients Clinical NA; the study concluded that differences in SMA 65.5% (19/29) homozygous SMN1 deletions in black patients. 47% (4/29) of SMN1 deletions were found in telomeric exon 7 but not exon 8. Also, 14% homozygous NAIP deletions were identified. Adam [19 ] Kenya; hospital-based Retrospective; 1978–1988 47 MND participants (35 men and 12 women). 18 of these were suffering from ALS (13–80 y olds) Clinical, 1/3 ENMG NA NA Kiepiela et al. [20 ] South Africa; Case-controlled studies South African and Indian SMA patients Clinical NA Genetics: no significant changes in patients’ immunoregulatory cells identified Kengne et al. [21 ] Cameroon; hospital-based Retrospective; 1993–2001 4041 patients; 145 with neurological diseases. Ten out of these were suffering from ALS (8 men and 2 women); mean age = 50.9 y NA 250/100,000 of all neurologic consultations; 12% of all neurological cases NA Imam and Ogunniyi [9 ] Nigeria; hospital-based Retrospective; 1980–1999 16 ALS patients (15 men and 1 woman), 16–60 y El Escorial diagnostic criteria NA Identified risk factor: trauma in 37.5% of subjects Sene et al. [22 ] Senegal; hospital-based Retrospective; 1999-2000 33 ALS patients El Escorial diagnostic criteria, ENMG NA NA Tekle-Haimanot et al. [23 ] Ethiopia; community-based Cross-sectional; 1986–1988 60820 participants (29412 men), 59% < 20 y, 3 MND patients (2 men and 1 woman) Neurological examinations, screening questionnaire 5/100,000 NA Labrum et al. [13 ] South Africa; hospital-based Case-controlled studies 116 SMA patients; 92 of black ancestry, 24 white patients Clinical (not ENMG) Carrier frequency of 1/50 in black population but 1/23 in white population 51% homozygous deletions of SMN1 gene in black patients, as opposed to 95% of patients worldwide Wall and Gelfand [24 ] Zimbabwe; hospital-based Retrospective; 1967–1971 13 MND patients; 24–55 y Clinical (not ENMG) NA Sensory changes in six participants Lumaka et al. [11 ] Kinshasha, Congo; hospital-based Case study 1 SMA type 1 infant patient Clinical, ENMG NA; family history (similar symptomatology in elder brother) Extreme hypotonia in infancy; homozygous deletions of SMN1 ; 2 SMN2 alleles present Collomb et al. [25 ] Senegal; hospital-based Retrospective; 1960–1968 18 ALS patients (17 men and 1 woman), 25–70 y Clinical (not ENMG) NA NA Pelleboer et al. [26 ] Nigeria; hospital-based Case study 1 SMA type 1 infant Clinical NA NA Bauer et al. [27 ] Tanzania, hospital-based Case-controlled series; 117 SA inpatient admissions and 117 matched controls; 24–77 y Neurological examination, screening questionnaire 7/117 in SA group but 0/117 in control group SA was identified as a risk factor for muscular atrophy Ndiaye et al. [28 ] Senegal; hospital-based Case study series 5 SMA type 1 patients Clinical, ENMG NA Identified risk factors: severe hypotonia in infancy, family history of SMA Osuntokun et al. [29 ] Nigeria; community-based Cross-sectional 18954 participants; 9282 men, 58% < 20 y, 11% > 50 y Screening questionnaire MND; 15/100,000 NA Lekoubou et al. [30 ] SSA; systematic analysis of associations between MNDs and diabetes mellitus Retrospective (3 case control and 2 cross-sectional studies) Up to 2371 ALS cases reviewed NA NA No association between ALS and diabetes mellitus identified Abdulla et al. [31 ] Sudan; hospital-based Retrospective; 1993–1995 28 MND patients, including 19 ALS patients Clinical, ENMG NA Family history of MND identified in 14% of patients Cosnett et al. [32 ] South Africa; hospital-based Retrospective; reviewed 9.5 y of cases 59 blacks (47.4 y mean age), 9 Indians, 16 whites, 2 coloured patients (54 y mean age for non-black patients) Clinical, 45% ENMG The following prevalence values per 100,000 persons were observed for different populations: blacks (0.88), whites ( NA Harries [33 ] Ethiopia; hospital-based Case study series; 1954 2 male participants, aged 26 and 30 y Clinical (no ENMG) NA NA Meilleur et al. [34 ] Mali; hospital/laboratory-based Case control Study cohort included 2 spastic paraplegia patients with amyotrophy, 5 extended family members, and 43 unrelated people of the same ethnic group Clinical NA Extended homozygosity at chromosome 19p13.11-q12 (designated as SPG43) in patients but not controls Jacquin-Cotton et al. [35 ] Senegal; hospital-based Retrospective; 1960–1969 6100 patients; 18 ALS (16 men), 25–70 y Clinical (no ENMG) 290/100,000 NA Moosa and Dawood [36 ] SSA Case study series 45 SMA patients; 15 SMA type 1, 19 type 2, and 9 type 3; infants to 48 month olds; 1 : 1.7 female/male ratio Clinical, ENMG NA Facial weakness in 80% of type 1 patients Piquemal et al. [37 ] Ivory Coast; hospital-based Retrospective; 1971–1980 4000 patients; 30 ALS (22 men), 50% < 40 y Clinical (no ENMG). 750/100,000 NA Landouré et al. [38 ] Mali; hospital- and laboratory-based Case control Study cohort included 2 spastic paraplegia patients with amyotrophy, 298 Malian controls, and several alleles found in the NHLBI exome sequencing Project database Clinical NA Homozygous missense variation of c.187G>C; p.Ala63Pro, in C19orf12 , was observed in the spastic paraplegia patients but not in the 298 Malian control subjects
