Table 2.
Disease courses of LD patients living in Germany
| Patient number | Nationality | Gender | Consanguinity | Variant | Age of onset | Current age | Current disease stage | Special features | |||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Tonic-clonic seizure | Myoclonus | Ataxia | Cognitive decline | ||||||||
| EMP2A | |||||||||||
| 1a | Tur | F | yes | c.259A > G (homo.) | 14 | 15 | 15 | 15 | 18 | 4 | Gelastic seizures |
| 2a | Ger | F | no | c.[269_275del];[917A > T] | 17 | 15 | 17 | 16 | 18 | 3–4 | Congenital hypothyroidism, polyneuropathy |
| 3a | Ger | F | no | c.290 T > G (homo.) | 14 | 15 | 17 | 17 | 25 | 3 | Psychogenic seizures |
| 4a | Leb | F | yes | c.322C > T (homo.) | 12 | n/a | n/a | n/a | 18 | 4 | Vision loss |
| 4b | Leb | M | yes | c.322C > T (homo.) | 11 | n/a | n/a | < 16 | 16 | 1–2 | |
| 5a | Rus | M | yes | c.759delinsCATGCA | 14 | 14 | 17 | 15 | 21 | 3 | Aggressiveness |
| 6a | Ger | M | no | c.836G > T (homo.) | 18 | 16 | 19 | 20 | 24 | 3 | |
| EMP2B | |||||||||||
| 7a | Syr | F | yes | c.385C > T (homo.) | 11 | 15 | 15 | 15 | 19 | 4 | Optic hallucinations, hypothyroidism, hepatomegaly |
| 8 | Tur | M | yes | c.436G > A (homo.) | 17 | 17 | 23 | 26 | 30 | 3–4 | Diabetes mellitus with coma and cataract, hypothyroidism, arterial hypertension |
| 9 | Tur | F | yes | c.436G > A (homo.) | 23 | 21 | – | 23 | 25 | 2 | |
| 10a | Ger | F | no | c.[436G > A];[730delG] | 16 | 17 | – | – | 23 | 1 | |
| 11a | Ira | M | yes | c.583del (homo.) | 8 | 13 | – | 8 | 13 | 1–2 | Psychogenic seizures |
Patients with novel variants are indicated by a superscripted letter (a). Patients 4 a and b are siblings. Abbreviations: Ger German, Ira Iraqi, Leb Lebanese, Rus Russian, Syr Syrian, Tur Turkish. Disease stage score was assessed according to Ferlazzo et al. [8]: (1) mild cognitive and motor impairment, preserved daily living activities, and social interaction; (2) moderate mental decline, limitations in motor activities, and limited social interaction; (3) severe mental and motor impairment, needing help in walking and regular assistance in daily living activity, and poor social interaction; (4) patient wheelchair-bound or bedridden, and no significant daily living activities or social interaction. Consanguinity or non-consanguinity status was based on family history