Table 1 Clinical findings at prolonged follow-up of the entire family. No family member presented signs of a spinal cord lesion or pediatric onset of the symptoms. The individuals in the family pedigree are identified as follows: 1 Great-grandmother; 2, Uncle; 3, Uncle; 4, Grandmother; 5, Aunt; 6, Aunt; 7, Mother; 8, Proband
1 Great grandmother | 2 Uncle | 3 Uncle | 4 Grandmother | 5 Aunt | 6 Aunt | 7 Mother | 8 Proband | |
|---|---|---|---|---|---|---|---|---|
Gender | F | M | F | F | F | F | F | F |
Mutation G3460A | Heteroplasmic | Homoplasmic | Homoplasmic | Homoplasmic | Homoplasmic | Homoplasmic | Heteroplasmic | Homoplasmic |
Age at onset -y | Unknown | Unknown | Unknown | 30 | 21 | 9 | – | 5 |
Signs of onset | Ipovisus | Ipovisus | Iipovisus | Ipovisus Unilateral to bilateral optic neuritis | Ipovisus Unilateral optic neuritis | Ipovisus Bilateral optic neuritis | No signs at ophthalmologic visit 2011 | Spinal cord lesion |
MRI brain signs | – | – | – | Multiple periventricular subcortical lesion | – | – | – | Negative |
OCB in CSF | – | – | – | Absent | – | – | – | Absent |
Progression of the disease | Blindness | Blindness Headache | Blindness Psychiatric comorbidities | Vertigo Tremor Diplopia Psychiatric trait | Bilateral scotoma Headache | Monolateral scotoma left eye; blind right eye | – | – |
Disorders associated | Unknown | Unknown | Unknown | Rolandic epilepsy Pericarditis ANA pos. | Osteoid osteoma | LLAC pos. Connectivitis | Headache | Cutaneous mastocytosis |
Therapy | Idebenon | – | Aspirin Corticosteroids Idebenon | |||||
Follow-up duration | 20 ys | 20 ys | 20 ys | 20 ys | 7 ys | 14 ys | 5y | 1 y |