CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations

Table 1 Clinical symptoms of patients with CGG expansion in NOTCH2NLC

Patient ID	1	2	3	4	5	6	7
Sex	F	F	M	M	F	M	M
Onset age	1 year	27 years	17 years	44 years	55 years	68 years	20 years
Repeat size	139	217,674	83, 184	116	135	132	128
Initial symptom	Dev	MW	MW, RPD	Ptosis	RPD	MW	PD
Ptosis	+	+	+	+	+	+	+
Ophthalmoplegia	+	+	+	+	+	+	+
Dysphagia	+	+	+	-	-	+	+
Dysarthria	+	+	+	+	+	+	+
Facial weakness	+	+	+	-	-	+	+
Limb muscle weakness	+	+	+	+	+	+	+
Distal/proximal/both	D (TA, Pe)	D > P	D > P	D (TA) > P	PU	D = P	D > P
Other muscle weakness	Neck	Neck	Neck	-	-	-	-
Muscle atrophy	Diffuse	Distal	Diffuse	Distal	-	-	Diffuse
Deep tendon reflex	↓↓	↓↓	↓	↓	↓	↓↓	↓↓
Sensory disturbance	-	-	-	+	+	+	-
Cerebellar symptoms Tremor	Ataxia	-	-	Tremor	Ataxia	NA	Ataxia
Eye abnormality	VD	RP	RPD	Mio, Pho	RPD	Cataract	-
Ear abnormality	Co	SHL	NA	+	+	+	-
HDSR	20	30	29	28	6	20	NA
Leukoencephalopathy	+	-	NA	NA	+	-	+
Neuropathy confirmed by NCV	+	NA	-	+	NA	+	+
ECG, UCG	-	Long QT	-	-	-	AV block, LVH	-
CSF cells per µl	2	NA	NA	2	1	1	4
CSF protein, mg/dl	60	NA	NA	110	157	77	59
CK IU/L	203	654	1475	1886	63	735	436
Lactate mg/dl	19.6	14.0	17.3	NA	21.6	5.3	9.7

Co conductive deafness, Dev developmental delay, DL distal lower limb, DU distal upper limb, HDSR Hasegawa dementia rating scale-revised, LVH left ventricular hypertrophy; Mio miosis, MW muscle weakness, N neck weakness, NA not available, PD panic disorder, Pe peroneal, Pho photophobia, PU proximal upper limb, RP retinal pigmentation, RPD retinal pigmentary degeneration, SHL sensory hearing loss, TA tibialis anterior, VD visual disturbance

ISSN: 2051-5960