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Table 2 Disease courses of LD patients living in Germany

From: Genotypes and phenotypes of patients with Lafora disease 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
  1. 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