Genotypes and phenotypes of patients with Lafora disease living in Germany

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
Patient number	Nationality	Gender	Consanguinity	Variant	Tonic-clonic seizure	Myoclonus	Ataxia	Cognitive decline	Current age	Current disease stage	Special features
				EMP2A
1^a	Tur	F	yes	c.259A > G (homo.)	14	15	15	15	18	4	Gelastic seizures
2^a	Ger	F	no	c.[269_275del];[917A > T]	17	15	17	16	18	3–4	Congenital hypothyroidism, polyneuropathy
3^a	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
5^a	Rus	M	yes	c.759delinsCATGCA	14	14	17	15	21	3	Aggressiveness
6^a	Ger	M	no	c.836G > T (homo.)	18	16	19	20	24	3
				EMP2B
7^a	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
10^a	Ger	F	no	c.[436G > A];[730delG]	16	17	–	–	23	1
11^a	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

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