Clinical feature | #2 proband | #3 proband | #3 mother | #4 proband | #4 son | #4 son | #5 proband | #5 son | #6 proband | #6 father | #6 brother |
---|---|---|---|---|---|---|---|---|---|---|---|
Mins, minutes; hrs, hours; secs, seconds; NT, not tested; V, vermis; H, hemisphere; fluctuations, fluctuation of permanent ataxia. | |||||||||||
Age (years) | 54 | 32 | 64 | 49 | 17 | 13 | 57 | 28 | 34 | 60 | 38 |
Age at onset (years) | 25 | 8 | 15 | 10 | 10 | 10 | 24 | 22 | 28 | − | 20 |
Symptoms | |||||||||||
Episodic | + | + | + | + | + | + | fluctuats | + | fluctuats | − | + |
Frequency | monthly | weekly | monthly | weekly | weekly | weekly | monthly | yearly | monthly | − | variable |
Duration | mins//hrs | hrs | mins/hrs | hrs | hrs | hrs | hrs/days | secs/mins | hrs/days | − | mins |
Ataxia | + | + | − | + | + | + | − | − | − | − | − |
Dysarthria | + | + | − | + | + | + | − | − | − | − | − |
Vertigo | + | + | + | − | − | − | − | + | − | − | + |
Nausea/vomiting | + | − | − | + | + | + | − | − | − | − | − |
Oscillopsia | − | − | − | + | + | + | − | − | − | − | − |
Headache | − | − | − | − | − | − | − | + | − | − | − |
Migraine | + | − | − | − | − | − | + | − | + | − | + |
Aura | − | − | − | − | − | − | auditory | − | − | − | − |
Interictal cerebellar | |||||||||||
Ataxia | mild | mild | mild | mild | − | mild | severe | − | severe | mild | − |
Dysarthria | − | − | − | mild | − | − | mild | − | mild | − | − |
Dysmetria | − | − | − | − | − | − | mild | − | severe | mild | − |
Adiadochokinesia | − | − | − | − | − | − | mild | − | mild | mild | − |
Nystagmus | + | + | + | + | + | + | + | + | + | + | + |
V atrophy | + | + | + | + | NT | NT | + | NT | + | NT | NT |
H atrophy | + | − | − | + | NT | NT | − | NT | + | NT | NT |
Extracerebellar | + | − | − | − | − | − | + | − | + | − | − |
Acetazolamide response | + | + | NT | + | + | + | NT | NT | NT | NT | NT |
Mutation | R2136C | ΔMS 1488/9 | ΔMS 1488/9 | C256R | C256R | C256R | G1483R | G1483R | V1494I | V1494I | V1494I |