Table 1.
Clinical and radiological features of the four patients at examination date
| Family-ID, Sex, Age at examination | P1[II-1], male, 26 | P1[II-2], male, 30 | P1[II-3], female, 20 | P2, female, 45 |
|---|---|---|---|---|
| Substitution | N65S/N65S | N65S/N65S | N65S/N65S | E28K/K144* |
| Age of onset | 2 years | CP diagnosis at birth | 8 months | 33 years |
| Onset symptom | Delayed development | na | Delayed development | Oligomennorhea, secondary infertility |
| Dysmorphic features at examination | Aged appearance | Aged appearance | Aged appearance | None |
| Long slender fingers, increased space between digits four and five, adducted thumbs | Adducted thumbs | Minor unspecific facial dysmorphism | ||
| Long slender fingers, increased space between digits four and five | ||||
| First neurological symptom (age in years) | Gait impairment (17) | Gait impairment, dysarthria (12) | Gait impairment (15) | Gait ataxia, dysarthria (32) |
| Neurological signs & symptoms | Myokimies | Head tremor and generalized intermittent postural tremor | Dyspraxia | Cerebellar ataxia, Dysarthria, mild dysphagia |
| Decreased tempo | ||||
| Cerebellar ataxia, mild dysarthria | ||||
| Cerebellar ataxia (17), dysarthria | ||||
| Cognitive impairment | ||||
| Epilepsy until 2 years of age | ||||
| Cerebellar ataxia, dysarthria, dysphagia | ||||
| Decreased tempo | ||||
| Increased muscle tone (rigidity and gegenhalten) | ||||
| Dyspraxia | ||||
| Distal muscle atrophy | ||||
| Cognitive impairment | ||||
| Increased muscle tone (rigidity) | ||||
| Cognitive impairment | ||||
| Disability score* | 5 | 5 (from 22 years) | 2 | 4 |
| MR findings (at examination) | Cerebellar hypoplasia, thin posterior corpus callosum, mild thinning of pons | Severe cerebellar atrophy, thin corpus callosum, thin pons | Cerebellar hypoplasia, thin pons and corpus callosum | Cerebellar hypoplasia, mild thinning of pons, “empty sella” |
| Ophthalmological findings | Horizontal nystagmus | Left sided chronic iridocyclitis with secundary glaucoma; Oculomotor dyspraxia with saccadic pursuit | Horizontal nystagmus; mild retinal atrophy | Results not available |
| Endocrinology | Increased anti TPO | Delayed menarche for family | Secondary infertility Hypothyroidism | |
| Diabetes type I | ||||
| Diabetes type 2 | ||||
| Other | Alopecia | Ulcerative colitis | Slight presbyacusis | Pancreatitis |
| Slight presbyacusis |
*Disability score → 0: no functional handicap; 1: no functional handicap but signs at examination; 2: mild, able to run, walking unlimited; 3: moderate, unable to run, limited walking without aid; 4: severe, walking with one stick; 5: walking with two sticks; 6: unable to walk, requiring wheelchair; 7: confined to bed.