Table 1 Clinical characteristics of RNF170 mutation carriers
From: Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
ID | A.4 | A.5 | B.3 | B.4 | B.5 | B.6 | C.4 | D.3 | D.4 |
|---|---|---|---|---|---|---|---|---|---|
Mutation | Ala109Asnfs*9 (hom) | Ala109Asnfs*9 (hom) | Cys102Arg (hom) | Cys102Arg (hom) | Cys102Arg (hom) | Cys102Arg (hom) | delEx4_7 (hom) | Arg173Asnfs*49 (hom) | Arg173Asnfs*49 (hom) |
moi/gender | AR/F | AR/M | AR/M | AR/M | AR/F | AR/M | AR/F | AR/M | AR/M |
Race/origin | Germany | Germany | Iran (Baluch) | Iran (Baluch) | Iran (Baluch) | Iran (Baluch) | Tunisia | Iran (Fars) | Iran (Fars) |
Age at onset (y) | 3 | 5 | 2 | 2 | 2 | 2 | 2 | 3 | 3 |
Age at exam (y) | 53 | 34 | 12 | 11 | 7 | 4 | 4 | 17 | 23 |
Age at loss of independent walking | 20 | 22 | 11.5 | Still walking | Still walking | Still walking | Still walking | Sill walking | Still walking |
Delayed motor development | – | – | + | + | + | + | + | – | – |
Cognitive deficits | – | – | – | – | – | – | – | – | – |
Visual system | Mild optic atrophy | Not examined | Severe optic atrophy | Moderate optic atrophy | Mild optic atrophy | Mild optic atrophy | Not examined | Optic atrophy | Optic atrophy |
Oculomotor abnormalities | Saccadic pursuit | Saccadic pursuit | – | – | – | – | – | Saccadic pursuit | Saccadic pursuit |
Dysarthria/ dysphagia | −/− | −/− | +/+ | +/+ | +/− | +/− | −/− | +/− | +/− |
UL/LL spasticity | +/+ | +/+ | −/+ | −/+ | −/+ | −/+ | −/+ | +/+ | +/+ |
UL/LL tendon reflexes | Brisk/brisk | Brisk/brisk | Normal/brisk | Normal/brisk | Normal/brisk | Normal/brisk | Normal/brisk | Brisk/brisk | Brisk/brisk |
UL/LL weakness | −/+ (proximal) | −/+ (proximal) | −/+ (distal) | −/+ (distal) | −/− | −/− | −/+ | −/+ | −/+ |
Muscle atrophy | – | – | + (generalized, severe) | – | – | – | – | – | – |
Extensor plantar response | + | + | + | + | + | + | – | + | + |
Sensory deficits* | −/−/−/− | +/−/+/+ | −/−/−/− | −/−/−/− | −/−/−/− | −/−/−/− | −/−/−/− | −/−/−/− | −/−/−/− |
Ataxia | – | – | + (upper limb and gait) | + (upper limb and gait) | + | + | – | + | + |
Extrapyramidal involvement | Mild cervical dystonia | – | – | – | – | – | – | – | – |
Urinary/fecal urgency or incontinence | +/− | +/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
Nerve conduction studies | Axonal polyneuropathy | Axonal polyneuropathy | Normal | Normal | n.d. | n.d. | Normal | Normal | Normal |
Motor evoked potentials | n.d. | UL normal, LL reduced cortical amplitudes | n.d. | n.d. | n.d. | n.d. | n.d. | n.d | n.d |
Sensory evoked potentials | LL no cortical potential (age 30) | UL prolonged central latency, LL no cortical potential (age 33) | n.d. | n.d. | n.d. | n.d. | Normal | n.d | n.d |
Visually evoked potentials | n.d. | n.d. | Normal | Normal | Normal | n.d. | n.d. | Increased p100 latency and reduced amplitude | Increased p100 latency and reduced amplitude |
MRI | n.d. | Cranium and cervical spine normal | Significant cerebellar atrophy | Cerebellar atrophy | Normal | n.d. | Cranium and cervical spine normal | Normal | Normal |
