Table 1.

Clinical features of patients with UQCRC1 mutations

Family	A					B		C
	II : 2	II : 4	II : 7	III : 4	III : 9	II : 1	II : 4	III : 1
Current age, years	77	74	69	49	42	76	71	69
Onset age, years	62	60	59	48	42	69	66	54
Sex	M	M	F	F	F	M	M	M
Initial symptoms
Asymmetry	+	+	+	+	+	+	+	+
Rest tremor	++	++	++	−	−	++	++	+
Rigidity	+	+	+	+	+	+	+	+
Bradykinesia	+	+	+	+	+	+	+	+
UPDRS scores (on time)
Part I	1	0	2	1	0	N/A	N/A	N/A
Part II	12	9	15	6	3	N/A	N/A	N/A
Part III	35	27	39	12	9	N/A	N/A	N/A
Hoehn-Yahr stage (on time)	III	III	IV	I	I	III	II	V
Cognition
MMSE	29	30	28	30	30	N/A	N/A	N/A
Associated symptoms
Anxiety	+	+	+	+	+	N/A	N/A	N/A
Depression	−	−	+	+	−	N/A	N/A	N/A
Polyneuropathy	+	+	+	+	−	N/A	N/A	N/A
Drug response
Levodopa	Well	Well	Well	Well	Well	Well	Well	Well
Anticholinergics	Well	Well	Well	N/A	N/A	Well	Well	Well
Brain MRI study	Mild diffuse atrophy	Mild diffuse atrophy	Mild diffuse atrophy	Unremarkable	Unremarkable	N/A	N/A	N/A
Nerve conduction study
Ulnar nerve MNCV, m/s (normal: >50 m/s)	45↓	46↓	45↓	48↓	52	N/A	N/A	N/A
Ulnar nerve cMAP, mV (normal: >6.0 mV)	3.2↓	3.0↓	3.7↓	5.2↓	5.8↓	N/A	N/A	N/A
Ulnar nerve SAP, mV (normal: >10.0 mV)	2.8↓	2.9↓	3.2↓	9.5↓	9.2↓	N/A	N/A	N/A
Sural nerve SAP, mV (normal: >5.0 mV)	Absent	Absent	Absent	Absent	Absent	N/A	N/A	N/A
EMG study	Neurogenica	Neurogenica	Neurogenica	Neurogenica	N/A	N/A	N/A	N/A

cMAP = compound muscle action potential; F = female; M = male; MMSE = Mini-Mental State Examination; MNCV = motor nerve conduction velocity; N/A = not assessed or not available from medical records; SAP = sensory action potential; UPDRS = Unified Parkinson's Disease Rating Scale, ‘on time’ refers to periods of adequate control of Parkinson’s disease motor symptoms and was usually within 3 h after taking levodopa medications. Upward arrow indicates increase; downwards arrow indicates decrease; −= absent; + = mild; ++ = moderate.

^aNeurogenic polyphasic waves in bilateral first dorsal interosseous muscles and tibialis anterior muscles.