Table 3.
Clinical features of ALS patients carrying autosomal recessive genes.
| Patient | Variant | Classification (Franklin ACMG Classification) | Sex | Family History |
Onset Age |
Phenotype | DD (Months) |
|---|---|---|---|---|---|---|---|
| ALS-24 | ATP13A2 c.2836A>T p.Ile946Phe | VUS | M | Dementia and PD | 47 | PLMN | 47 |
| ALS-40 | ATP13A2 c.1382delC p.Ala461ValfsTer5 | Likely pathogenic | F | None | 87 | Classic | 24 |
| ALS-46 | ATP13A2 c.3059A>G p.Tyr1020Cys | VUS | F | None | 51 | Classic | 113 |
| ALS-91 | ATP13A2 c.2947C>T p.Pro983Ser | VUS | F | None | 52 | Classic | 36 |
| ALS-2 | CHCHD2 c.101C>T p.Pro34Leu | VUS | M | None | 63 | Classic | 50 |
| ALS-2 | DNAJC6 c.1112A>C p.Lys371Thr | VUS | M | None | 63 | Classic | 50 |
| ALS-27 | DNAJC6 c.829G>A p.Ala277Thr | VUS | M | None | 49 | Classic | 73 |
| ALS-81 | DNAJC6 c.2048C>T p.Thr683Met | VUS | M | None | 65 | Classic | 24 |
| ALS-60 | FBXO7 c.301A>C p.Asn101His | VUS | M | None | 71 | Classic | 33 |
| ALS-98 | FBXO7 c.1538G>A p.Arg513Gln | VUS | F | Dementia | 62 | Classic | 119 |
| ALS-15 | PINK1 c.1342G>A p.Gly448Arg | VUS | F | None | 56 | PUMN | Unknown |
| ALS-18 | PINK1 c.434C>T p.Thr145Met | VUS | M | None | 64 | PLMN | 154 |
| ALS-53 | PINK1 c.1609G>A p.Ala537Thr | VUS | M | Dementia | 54 | PUMN | 51 |
| ALS-98 | PINK1 c.587C>T p.Pro196Leu | VUS | F | Dementia | 62 | Classic | 119 |
| ALS-106 | PINK1 c.587C>T p.Pro196Leu | VUS | F | Dementia | 74 | Classic | 22 |
| ALS-103 | PARK7 c.535G>A p.Ala179Thr | VUS | M | None | 38 | Classic | Unknown |
| ALS-28 | GCH1 c.671A>G p.Lys224Arg | Likely pathogenic | F | None | 73 | Classic | 44 |
| ALS-12 | PARK2 c.1204C>T p.Arg402Cys | VUS | M | None | 66 | PLMN | 21 |
| ALS-25 | PARK2 c.1204C>T p.Arg402Cys | VUS | F | None | 69 | Classic | 73 |
| ALS-64 | PARK2 c.1204C>T p.Arg402Cys | VUS | M | None | 39 | PLMN | Unknown |
| ALS-80 | PARK2 c.1204C>T p.Arg402Cys | VUS | M | None | 55 | PUMN | 24 |
| ALS-113 | PARK2 c.1204C>T p.Arg402Cys | VUS | M | Dementia | 40 | PLMN | Unknown |
| ALS-126 | PARK2 c.1204C>T p.Arg402Cys | VUS | M | None | 36 | Classic | 10 |
| ALS-100 | PARK2 c.701G>A p.Arg234Gln | VUS | F | Dementia | 57 | Classic | 41 |
| ALS-129 | PARK2 c.436T>C p.Phe146Leu | VUS | M | None | 63 | Classic | 27 |
| ALS-47 | SYNJ1 c.2771T>G p.Val924Gly | Likely pathogenic | F | None | 45 | Classic | Unknown |
| ALS-97 | SYNJ1 c.1655C>T p.Ser552Phe | VUS | F | Dementia | 78 | Classic | Unknown |
| ALS-73 | SYNJ1 c.3881C>T p.Pro1294Leu | VUS | M | None | 44 | PLMN | 44 |
| ALS-88 | SYNJ1 c.3881C>T p.Pro1294Leu | VUS | F | Dementia | 59 | Classic | 78 |
| ALS-95 | SYNJ1 c.3863C>T p.Pro1288Leu | VUS | F | None | 70 | Classic | Unknown |
| ALS-125 | SYNJ1 c.4266T>A p.Ser1422Arg | VUS | M | None | 38 | Classic | |
| ALS-128 | PLA2G6 c.977T>C p.Met326Thr | VUS | F | None | 57 | Classic | Unknown |
Key: ALS, amyotrophic lateral sclerosis; ATP13A2, ATPase 13A2; DD, disease duration; DNAJC6, DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 6; F, female; FBXO7, F-box only protein 7; GCH1, GTP CYCLOHYDROLASE I; M, male; PINK1, PTEN-INDUCED PUTATIVE KINASE 1; PARK2, parkin; PARK7, PARKINSON DISEASE 7; PLA2G6, PHOSPHOLIPASE A2; PLMN; predominant lower motor neuron; PUMN, predominant upper motor neuron; SYNJ1, SYNAPTOJANIN 1; VUS, variant of uncertain significance. In bold: patients carrying more than one variant.