Table 1.

The clinical features and GGC repeat size of five OPDM patients with NOTCH2NLC mutation

Variables	Family 1		S1	S2a	S3
	F1-III8	F1-III10a
Sex	Female	Female	Male	Female	Male
Age of onset	19	18	29	31	22
Disease duration, years	15	11	18	17	10
Initial symptom	Weakness in bilateral legs	Weakness in bilateral legs	Weakness in bilateral legs	Binocular with diplopia	Weakness in bilateral legs
Clinical features
Ptosis	+	+	+	+	+
External ophthalmoplegia	–	–	+	+	+
Dysphagia	+	+	+	+	+
Dysarthria	+	+	+	+	+
Facial weakness	+	+	+	+	+
Distal limb muscle weakness	+	+	+	+	+
Tremor	–	–	–	NA	–
Tendon reflexes
Upper limb	Decreased	Decreased	Absent	Absent	Absent
Lower limb	Absent	Absent	Absent	Absent	Absent
Sensory disturbance	–	–	–	–	–
Leukodystrophy	+	NA	+	+	–
MMSE	30 points	NA	30 points	NA	30 points
Serum creatine kinaseb (IU/l)	1444	319	353	215	1140
EMG pattern	MC	NC	NC	MC and NC	MC
Rimmed vacuoles	+	+	+	+	–
Repeat units	187	128	198	NA	165

MC = myopathic change; MMSE = Mini-Mental State Examination; NA = not available; NC = neurogenic change.

^aDeceased individual.

^bNormal limits: 70–170 IU/l.