Introduction
Methodology
Results
Hereditary spastic paraplegia
Ref | Country | HSP type | Inh | AAO, years | Additional phenotypic features | Gene | HGVS | Gene Variant assessment | ||
---|---|---|---|---|---|---|---|---|---|---|
Proband count | Segregation | Pop. freq | ||||||||
Northern Africa | ||||||||||
[26] | Tunisia+ | SPG5 | AR | 9–10 | WM-HI | CYP7B1 | R112* a | 1 | Yes | No |
[14] | Morocco−, Algeria+ | SPG7 | AR | ~ 30 < 10 | - | PGN | F284fs/V581delb Q82del | 1 1 | Yes No | Yes Yes |
Algeria±, Morocco+, Tunisia+, Egypt+ Sudan+ | SPG11 | AR | 2–23 | ± dysarthria/dysphagia; ± Cog; ± scoliosis; ± pes cavus; UL tremor; ± weakness/atrophy UL/LL; ± ataxia; ± epilepsy; ± TCC/WM-HI; ± motor axonopathy | KIAA1840 | R2034* c M245fs a,c V2344fs S412L L517fs Q498*a K1190* G2117* A2237fs c.5866 + 1G > Ac | 10 5 1 1 1 2 1 1 2 1 | Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes | Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes | |
Tunisia+, Morocco+, Algeria+ | SPG15 | AR | 1– 20 | ± Cog, ± PBD, pes cavus, ± scoliosis, ± LL atrophy, ± TCC/WM-HI, ± axonopathy | ZFYVE26 | S2004T Q493* F683fs R1438* a,c c.5485-1G > A | 1 4 2 1 1 | Yes Yes Yes Yes Yes | No Yes Yes Yes Yes | |
[22] | Tunisia+ Algeria+ | SPG26 | AR | 3–19 | Cog., ataxia, PNP; WM-HI | B4GALNT1 | R300Cc L89fs | 1 1 | Yes No | Yes Yes |
[23] | Morocco+ | SPG28 | AR | < 1 | Cog., WM-HI/BG calcification | DDHD1 | R589Q | 1 | Yes | Yes |
[20] | Morocco+ | SPG35 | AR | 4 | Cog | FA2H | G46D | 1 | No | No |
[20] | Morocco+ | SPG48 | AR | < 1 | Cog., ataxia | AP5ZI | R206W | 1 | Yes | No |
[21] | Tunisia+ | SPG46 | AR | 2–10 | Cog., ataxia, cataracts | GBA2 | R630W | 1 | Yes | Yes |
[13] | Morocco+ | SPG51 | AR | < 1 | Cog., PBD | AP4E1 | R1105* c,d | 1 | Yes | Yes |
[9] | Sudan | SPG57 | AR | < 1.2 | ± Microcephaly | TFG | R22W c,d | 1 | Yes | Yes |
[9] | Sudan | ARSACS | AR | 10–11 | ± weakness UL/LL; ± ataxia; ± Cog.; SM axonopathy | SACS | W2580* | 1 | Yes | Yes |
[25] | Morocco+ | UK | AR | 1–5 | Ulcero-mutilating neuropathy; SM axonopathy | CCT5 | H147R | 1 | Yes | Yes |
[12] | Tunisia+ | UK | AR | 2 | Optic atrophy | RNF170 | delEx4_7 d | 1 | Yes | Yes |
[10] | Morocco+ | SPG76 | AR | 20–39 | ± Dysarthria; ± ataxia; ± pes cavus; scoliosis; PNP | CAPN1 | R295P G527* | 1 1 | Yes Yes | Yes Yes |
[11] | Egypt | SPOAN | AR | < 1 | Optic atrophy; neuropathy | KLC2 | 216bpdel 5’UTR a,d | 1 | UK | Yes |
[9] | Sudan | UK | AR | < 1.5 | ± PBDc | ALS2 | C123Y | 1 | Yes | Yes |
[9] | Sudan | SPG3A | AD | 1.5–7 | ± proximal weakness LL | ATL1 | F151S | 1 | Yes | Yes |
Morocco− Tunisia− | SPG4 | AD AD S | 10–20 12–38 1 | ± Cog | SPAST | R499C a S404F G442K | > 2 1 1 | Yes Yes Yes | Yes Yes Yes | |
Sub-Saharan Africa | ||||||||||
[17] | Kenya+ | SPG7 | AR | ~ 30 | Ataxia | PGN | L78 c | 1 | No | No |
Kenya + Somalia− | SPG11 | AR | 10–20 ~ 2 | Oromandibular dystonia ± Cog; ± ataxia | KIAA1840 | S1923fs c A2237fs | 3 1 | No No | No No | |
[29] | Mali+ | SPG35 | AR | ~ 2 | dysphagia | FA2H | c.786 + 1G > A a | 1 | Yes | No |
[31] | Mali+ | SPG43 | AR | 7–12 | SM neuropathy | C19orf12 | A63P a,c | 1 | No | Yese |
[33] | South Africa− | SPG3A | AD | 50–60 | Cog.; TCC | ATL1 | R416C c | 1 | Yes | Yes |
[30] | Mali+ | SPG10 | AD | 10–20 | SM neuropathy; axonopathy | KIF5A | K362N | 1 | Yes | Yes |
HSP in North Africa
HSP in sub-Saharan Africa
Genetic neuropathies
Ref | Country | Disease | Inh | AAO, years | Phenotypic features in addition to CMT | Gene | Gene variant | Gene Variant Assessment | ||
---|---|---|---|---|---|---|---|---|---|---|
Proband count | Segregation | Pop Freq | ||||||||
North Africa | ||||||||||
Algeria± Morocco+ | CMT2B1 | AR | 2 – 27 | ± proximal LL weak; ± scoliosis; axonopathy | LMNA | R298Ca | 28 | Yes | Yes | |
Morocco+ Tunisia+ Morocco− | CMT4A | AR | < 2 1–6 3 | ± kyphosis; claw hands; ± proximal LL weak; demyelinating ± proximal LL weak; claw hands; axonopathy ± proximal LL weak; ± diaphragm; axonopathy | GDAP1 | W31* P78L (S194*b) R161H S194* a,c(R310Qb) | 2 3 1 8 | No Yes No Yes | No Yes Yes Yes | |
[37] | Algeria+ | CMT4B1 | AR | 1 – 12 | Chest deformity; claw hands; ± vocal cord paralysis; demyelinating | MTMR2 | p.R111fs | 1 | Yes | Yes |
[47] | Tunisia+/Morocco+ | CMT4B2 | AR | 2 – 15 | ± Glaucoma; demyelinating | MTMR13 | R1196*a Q956* | 1 1 | Yes Yes | Yes Yes |
Ref | Country | Disease | Inh | AAO | Phenotypic features in addition to CMT | Gene | Gene variant | Proband | Segr | P Freq |
---|---|---|---|---|---|---|---|---|---|---|
[50] | Algeria | CMT4C | AR | 4–10 | Scoliosis; ± cranial neuropathy (hypoacusia/facial); demyelinating | SH3TC2 | E731fs (Het) c.1178-1G > A R904*a R954* a | 1 1 1 1 | No No Yes No | No No No No |
[37] | Algeria+ | CMT4F | AR | 10–12 | Kyphoscoliosis; ± sensory ataxia; demyelinating | PRX | p.Arg364Ter | 1 | Yes | Yes |
Tunisia+/ Algeria+ | CMT4H | AR | < 2 | Scoliosis; “Ataxia”; demyelinating | FGD4 | A172fs M298T R442H | 1 1 1 | No Yes Yes | Yes Yes Yes | |
Algeria− | dHMN | AD | 11–35 | UL motor axonopathy | GARS | G526R | 4 | Yes | No | |
Sub-Saharan Africa | ||||||||||
[54] | Nigeria− | CMT1B | AD | > 50 | Demyelinating | MPZ | S78W | 1 | No | Yes |
[56] | Mali+ | CMT2D | AR | 12 | UL motor/sensory; ± seizures; S/M axonopathy | GARS | S265Y (Het) | 1 | No | No |
[55] | Ivory Coast+ | CMTint | AR | < 10 | Proximal weak; MRI-WM; raised CK; conduc. blocks | PLEKHG5 | C35fs | 1 | Yes | Yes |