Table 2.
Phenotypes of our 27 patients
| Patient | Polyneuropathy | Hearing loss | Other symptoms | ||||||
|---|---|---|---|---|---|---|---|---|---|
|
Reference Family |
Patient (gender/age in years) |
Form (Fam/spo)/ AD, AR or X‐linked |
Neuropathy | Pes cavus | VCM (m/s) | Age at onset (years) | Degree | Age at onset (years) | |
| I | F, 87 | Spo/ NA | Sensori‐motor Demyelinating | Y | 48 | 12 | NC | NC | Urinary incontinence, Small legs |
| II | F, 90 | Spo/ NA | Sensori‐motor Axonal | Y | NC | 61 | Severe AN | 68 | / |
| III | M, 80 | Fam/ AD | Sensori‐motor Axonal | Y | 56 | 59 | Moderate | NC | Cataracts, Retinal detachment |
| IV | M, 35 | Spo/ NA | Sensori‐motor Axonal | N | 20–30 | 8 | Profound | 1 | Optic Neuropathy, Balance disorder |
| V | F, 86 | Fam/AD | Sensori‐motor Demyelinating | Y | 18 | 68 | Progressive | NC | Balance disorder |
| VI | M, 88 | Fam/AD | Sensori‐motor Demyelinating | Y | 31 | 72 | NC | NC | Ataxia, Alzheimer disease |
| VII | F, 60 | Fam/AD | Demyelinating | NC | NC | NC | Moderate | NC | Balance disorder |
| VIII | F, 47 | Spo/NA | Sensori‐motor Demyelinating | Y | 27 | 4 | NC | NC | Optic Neuropathy |
| IX | F, 47 | Fam/AD | Sensori‐motor Axonal | Y | NC | 44 | Moderate | 35 | Pain, Chronic Respiratory Insufficiency |
| X | M, 69 | Fam/AD | Sensori‐motor Demyelinating | NC | NC | NC | NC | NC | Severe form |
| X1 | F, 68 | Fam/AD | Sensori‐motor Axonal | Y | 43 | 35 | Moderate and progressive | 35 | / |
| XII | M, 33 | Fam/AD | Sensori‐motor Demyelinating | Y | 36 | 20 | Severe AN | 5 | Tomacular neuropathy |
| XIII | F, 34 | Spo/ NA | Sensori‐motor Demyelinating | Y | NC | 12 | Profound | 1 | Pain, Primary amenorrhea, oesophagus atresia |
| XIV | F, 68 | Fam/AD | Sensori‐motor Demyelinating | NC | 30 | 50 | Severe to Profound AN | 50 | Balance disorders, Cochlear Implantation |
| XV | M, 29 | Spo/NA | Sensori‐motor Axonal | Y | 58 | < 5 | NC | < 5 | / |
| XVI | F, 75 | Spo/NA | Sensori‐motor Demyelinating | Y | 51 | < 5 | NC | NC | / |
| XVII | F, 68 | Spo/NA | Sensori‐motor Demyelinating | Y | 34–37 | 9 | Moderate | 60 | Scoliosis |
| XVIII | M, 68 | Fam/AD | Sensori‐motor Axonal | Y | NC | 65 | Moderate AN | 62 | Bilateral Vocal cord Paresis |
| XIX | F, 69 | Fam/AD | Sensori‐motor Axonal | Y | NC | 45 | Moderate | 45 | |
| XX | M, 83 | Fam/AR | Sensori‐motor Demyelinating | Y | 31 | 73 | Moderate | 60 | |
| XXI | F, 10 | Fam/AD | Sensori‐motor Demyelinating | Y | NC | 2 | Moderate | 1 | / |
| XXII | F, 80 | Spo/ NA | Sensori‐motor Axonal | Y | NC | 45 | NC | NC | Scoliosis, Cataracts |
| XXIII | M, 19 | Spo/ NA | Sensori‐motor Axonal | Y | 52 | 11 | Mild | 6 | Urinary incontinence, wheelchair |
| XXIV | F, 71 | Spo/ NA | Sensori‐motor Demyelinating | Y | 41 | 45 | NC | < 5 | Scoliosis |
| XXV | M, 78 | Fam/AD | Sensori‐motor Axonal | Y | 46 | NC | NC | NC | Ataxia, Gougerot‐Sjogren |
| XXVI | M, 38 | Spo/ NA | Sensori‐motor Demyelinating | NC | 25–30 | 15 | Moderate to profound AN | 5 | Cataracts, Ataxia |
| XXVII | M, 61 | Spo/ NA | Sensori‐motor Axonal | Y | 44 | NC | Fluctuating | 54 | / |
Abbreviations: AN, auditory neuropathy; F, female; Fam, familial; M, male; NA, not Available; NC, not communicated; Spo, sporadic.