Table 3 Molecular findings in Algerian patients affected with autosomal recessive ataxia
From: Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia
ARCA (Gene) | Number of patients (families) | Family mutation (E, Exon. I, Intron) | Reference |
|---|---|---|---|
FRDA (FXN) | 49 (31) | Homo (GAA)n expansion (I1) | [12] |
AVED (TTPA) | 19 (16) | Homo c.744delA ; p.Glu249Asnfs*15 (E5) | [11] |
AOA2 (SETX) | 2 (1) | Homo c.2602C > T; p.Gln868* (E8) | [32] |
|  | 1 (1) | Homo c.5267T > C ; p.Phe1756Ser (E8) | [32] |
| Â | 9 (5) | Homo del exon 17 and 18 | [9] |
| Â | 1 (1) | Homo del exon 5 | [9] |
|  | 1 (1) | Homo c.5123G > C ; p.Trp1708Ser (E8) | This study |
| Â | 1 (1) | Homo c.5308_5311delGAGA ; p.Glu1770Ilefs*15 (E9) | [64] |
|  | 2 (1) | Homo c.915G >T; p.Trp305Cys (E8) | [32] |
|  | 1 (1) | Comp. Heter c.915G > T; p.Trp305Cys (E8) c.985C > T; p.Arg329* (E8) | [32] This study |
ARSACS (SACS) | 1 (1) | Homo c.7372_7376delCTTAT ; p.Leu2458Alafs*5 (E10) | [65] |
| Â | 2 (1) | Homo c.4882_4886delCAGTT/insAGAAGC p.Gln1628Thrfs*13 (10) | [65] |
|  | 4 (3) | Homo c.12220G >C (exon 10), p.Ala4074Pro (E10) | [36] |
|  | 1 (1) | Homo c.6355C >T (exon10); p.Arg2119* (E10) | This study |
AOA1 (APTX) | 5 (3) | Homo c.837G >A; p.Trp279* (E6) | [44] |
|  | 1 (1) | Homo c.875-1G >A (disruption of splice site) (E7) | [46] |
SCAR9 (ADCK3) | 4 (1) | Homo c.1398 +2T>C; p.Asp420Trpfs*40/ p.Ile467Alafs*22 (I11) | [49] |
| Â | 1 (1) | Homo c.500_521delinsTTG, p.Gln167leufs*36 ( E3) | [49] |
| Â | 1 (1) | Homo c.1334_1335delCA ; p.Thr445Argfs*51 (E11) | This study |
PHARC (ABHD12) | 1 (1) | Homo c.846_852dupTAAGAGC; p.His285fs*1 (E9) | [56] |
SCAR8 (SYNE1) | 1 (1) | Homo c.3715G >T ; p.Glu1239* (E30) | This study |
MSS (SIL1) | 1 (1) | Homo c.1285T >G ; p.Tyr429Asp (E11) | This study |