Table 2.
Clinical and demographic features of patients carrying novel pathogenic repeat configurations in RFC1
| RFC1 genotype | Sex | Ethnicity | Phenotype | AOO | DD, y | Chronic cough | Cerebellar syndrome | Sensory neuropathy | Bilateral vestibular areflexia | Dysautonomia | Walking aid use (age, y) | Additional features | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAGGC expansion | |||||||||||||
| Case I-1 | Allele 1: (AAGGG)510(AAGGC)880 Allele 2: (AAGGG)940(AAGGC)900 |
F | Caucasian (Indian) |
CANVAS | 24 | 17 | Yes | Yes | Yes | Yes | No | Stick (36) | Cramps, pyramidal signs |
| Case I-2 | Allele 1: (AAGGG)n(AAGGC)n Allele 2: (AAGGG)n(AAGGC)n |
F | Caucasian (Indian) | Sensory neuropathy + cough | 34 | 8 | Yes | N/A | Yes | N/A | N/A | No | – |
| AGGGC expansion | |||||||||||||
| Case II-1 | Allele 1: (AGGGC)1240 Allele 2: (AAGGG)930 |
M | Mixed (Lebanese) |
Sensory neuropathy + vestibular dysfunction | 53 | 11 | Yes | No | Yes | Yes | Yes | No | Cramps |
| Case III-1 | Allele 1: (AGGGC)3200 Allele 2: (AAGGG)1000 |
M | Caucasian (British) | CANVAS | 71 | 12 | Yes | Yes | Yes | N/A | Yes | Wheelchair (81) | Cramps, cognitive/behavioural abnormalities after age 80 |
| Case IV-1 | Allele 1: (AGGGC)1875/ Allele 2: (AAGGG)500 |
M | Caucasian (Italian) | CANVAS | 41 | 34 | No | Yes | Yes | Yes | Yes | Wheelchair (72) | Cramps |
| Case V-1 | Allele 1: (AGGGC)n/ Allele 2: (AAGGG)n |
F | Caucasian (Italian) | Sensory neuropathy + cough | 60 | 13 | Yes | No | Yes | No | No | No | – |
| Case V-2 | Allele 1: (AGGGC)n/ Allele 2: (AAGGG)n |
F | Caucasian (Italian) | Sensory neuropathy | 40 | 20 | No | No | Yes | No | No | No | – |
| Case VI-1 | Allele 1: (AGGGC)n/ Allele 2: (AAGGG)n |
F | Caucasian (Italian) | Sensory ganglionopathy + cough | 62 | 23 | Yes | No | Yes | N/A | Yes | No | Voice and hand tremor, urinary incontinence |
| AGAGG expansion | |||||||||||||
| Case VII-1 | Allele 1: (AAAGG)470(AGAGG)470/ Allele 2: (AAGGG)1140 |
F | Caucasian (British) | CANVAS | 50 | 24 | Yes | Yes | Yes | Yes | No | Walker (69), wheelchair (74) | – |
| AAAGG expansion | |||||||||||||
| Case VIII-1 | Allele 1: (AAAGG)610(AAGGG)390/ Allele 2: (AAGGG)1100 |
M | Caucasian (British) | CANVAS | 55 | 20 | Yes | Yes | Yes | N/A | Yes | Walker and wheelchair (74) | Cognitive impairment since age 72 |
| Case IX-1 | Allele 1: (AAGGG)700(AAAGG)200/ Allele 2: (AAGGG)1170 |
M | Caucasian (British) | CANVAS | 45 | 31 | Yes | Yes | Yes | Yes | Yes | Walker (75) | RBD, positive DatScan |
| Case X-1 | Allele 1: (AAAGG)980/ Allele 2: (AAGGG)1010 |
M | Caucasian (Australian) | CANVAS | 58 | 15 | Yes | Yes | Yes | Yes | N/A | N/A | – |
| Case XI-1 | Allele 1: (AAAGG)800/ Allele 2: (AAGGG)500 |
F | Caucasian (Italian) | Sensory ganglionopathy + cough | 73 | 3 | Yes | No | Yes | No | No | Stick (77) | – |
| Case XII-1 | Allele 1: (AAAGG)600/ Allele 2: (AAGGG)390 |
M | Caucasian (Italian) | Sensory ganglionopathy + cough | 56 | 10 | Yes | No | Yes | No | No | No | – |
AOO = age of onset; CANVAS = cerebellar ataxia, neuropathy and vestibular areflexia syndrome; DD = disease duration; F = female; M = male; RBD = REM sleep behaviour disorder.