Table 1.
Phenotypic features and evolution of the PRDX3 patients
| Patient 1 | Patient 2 | |
|---|---|---|
| Demographics | ||
| Current age, years | 18 | 51 |
| Sex | Female | Male |
| Ethnicity | Syrian (Kurdish) | Turkish (nomads; Antalya) |
| Consanguinity | Yes (first degree) | Yes (third degree) |
| Family history | Cousin, ataxia | Brother: cerebellar ataxia with dysarthria (starting at age 30 years), liver cirrhosis (starting at age 39 years; no history of alcohol, negative for Wilson’s disease), death at age 52 years from liver cirrhosis |
| Mode of inheritance | Autosomal recessive | Autosomal recessive |
| Allele 1 | c.43C>T (p.Arg15Ter) | c.658C>T (Gln220Ter) |
| Allele 2 | c.43C>T (p.Arg15Ter) | c.658C>T (Gln220Ter) |
| Chromosome | Chr10:119177147 | Chr10:119169236 |
| Transcript | NM_006793.5 | NM_006793.5 |
| Delayed motor milestones | Yes, first walking age 2 years | Normal |
| Gait ataxia, age in years | 2 | 35 |
| Upper limb ataxia, age in years | 3 | 36 |
| Dysarthria | None | 35 |
| Dysphagia, age in years | 16 | 35 |
| SARA (age in years) | 7.5 (18) | 12 (51) |
| Overall disease severity trajectory (by history) | Improving (slowly) | Worsening (slowly) |
| Age at last exam, years | 18 | 51 |
| Oculomotor signs | No saccadic pursuit, hypometric saccades | Saccadic pursuit, hypermetric saccades |
| Cerebellar dysarthria | No | Yes |
| Hypokinetic features | No | Hypomimia |
| Hyperkinetic features | No | Spontaneous startling reactions |
| Pyramidal signs | No | No |
| Muscle weakness | No | No |
| Sensory impairment | No | No |
| Cognitive impairment | No | No |
| MRI | Cerebellar atrophy, T2 hyperintense signals cerebellum and brainstem | Cerebellar atrophy, T2 hyperintense signals cerebellum and brainstem |
No = absent; SARA = Scale for the Assessment and Rating of Ataxia; Yes = present.