Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy

Table 1

Summary of major clinical features in 21 Chinese MLD patients.

Pt. ID	Sex	Age onset	Family history	Symptoms at onset	Neurological findings	ARSA enzyme activity	Brain MRI findings
1	Female	5 yrs	−	Psychomotor deterioration, motor regression, mental deterioration	Spastic paraparesis	+	Symmetrical deep WM abnormalities
2	Male	3 yrs	−	Psychomotor deterioration, motor regression	−		Symmetrical deep WM abnormalities
3	Male	6 mon	−	Motor retardation, nystagmus	Nystagmus, peripheral neuropathy		Symmetrical deep WM abnormalities and basal ganglia changes
4	Male	17 mon	−	Psychomotor deterioration, motor regression	Peripheral neuropathy		Symmetrical deep WM abnormalities
5	Male	18 mon	−	Psychomotor deterioration, motor regression	Peripheral neuropathy	+	Symmetrical deep WM abnormalities
6	Female	4 yrs	−	Psychomotor deterioration, motor regression	Dysarthria	+	Symmetrical deep WM abnormalities
7	Male	14 mon	−	Psychomotor deterioration, motor regression, strabismus, nystagmus	Peripheral neuropathy	+	Symmetrical deep WM abnormalities
8	Male	15 mon	−	Psychomotor deterioration, motor regression	Peripheral neuropathy		Symmetrical deep WM abnormalities
9	Female	6 mon	−	Motor retardation	−		Symmetrical deep WM abnormalities
10	Male	16 mon	−	Psychomotor deterioration, motor regression, mental deterioration	Peripheral neuropathy		Symmetrical deep WM abnormalities
11	Female	16 mon	−	Psychomotor deterioration, motor regression	Peripheral neuropathy	+	Symmetrical deep WM abnormalities
12	Female	41 mon	−	Psychomotor deterioration, motor regression	Peripheral neuropathy		Symmetrical deep WM abnormalities
13	Female	7 mon	−	Motor retardation	Peripheral neuropathy	+	Symmetrical deep WM abnormalities
14	Male	18 mon	−	Psychomotor deterioration, motor regression, mental deterioration, strabismus	Peripheral neuropathy	+	Symmetrical deep WM abnormalities
15	Male	27 mon	−	Psychomotor deterioration, motor regression	Peripheral neuropathy	+	Symmetrical deep WM abnormalities
16	Female	28 mon	−	Psychomotor deterioration, motor regression	Peripheral neuropathy	+	Symmetrical deep WM abnormalities
17	Female	12 mon	−	Psychomotor deterioration, motor regression	Peripheral neuropathy	+	Symmetrical deep WM abnormalities
18	Male	12 mon	−	Psychomotor deterioration, motor regression	Peripheral neuropathy	+	Symmetrical deep WM abnormalities
19	Male	15 mon	−	Psychomotor deterioration, motor regression, nystagmus	Nystagmus, peripheral neuropathy	+	Symmetrical deep WM abnormalities
20	Male	12 mon	−	Psychomotor deterioration, motor regression	Dysarthria, peripheral neuropathy	+	Symmetrical deep WM abnormalities
21	Male	15 mon	−	Psychomotor deterioration, motor regression	Peripheral neuropathy	+	Symmetrical deep WM abnormalities