Table 1 Clinical features of all 20 patients

Pt	Gender	Age	Motor delay	Intelligence delay	Nystagmus	Regression	Ataxia	MRI	Mutated Gene
1	Female	2y3m	+++	+++	√	−	−	H, ACB, BG	TUBB4A
2	Male	6y3m	+++	++	√	√	√	H, BG	TUBB4A
3	Male	4y11m	++++	++	√	−	√	H, BG	TUBB4A
4	Male	9y7m	+	−	√	√	√	H, BS	POLR3A
5	Male	3y4m	+	−	√	√	√	H	POLR1C
6	Male	11y	+	+	√	√	√	H, ACB	POLR1C
7	Female	1y4m	+	+	−	−	−	H	SOX10
8	Female	3y4m	+	−	√	−	−	H	TMEM106B
9	Female	5y1m	++	+	−	−	−	H	DEGS1
10	Female	5y6m	+	−	√	−	−	H	TMEM63A
11	Male	4y2m	+++	+++	√	−	−	H^a	TMEM63A
12	Male	4y7m	+	+	√	−	−	H, SCB
13	Male	4y6m	++++	++++	√	−	−	H, BS
14	Male	1y9m	+++	+	√	−	−	H	−
15	Male	4y5m	+++	+++	√	−	−	H	−
16	Female	1y3m	+	+	√	−	−	H,	−
17	Male	10m	++	−	√	−	−	H	−
18	Male	1y1m	++	+	√	−	−	H	−
19	Male	11m	+	+	√	−	−	H	−
20	Male	1y3m	+++	+++	−	−	−	H	−

√ positive, − negative, + mild delay, ++ moderate delay, +++ severe delay, ++++ profound delay, m months, y years, H hypomyelination, ACB atrophy of cerebellum, SCB abnormal signal in cerebellum to abnormal signal in cerebellar peduncle and white matter, BS abnormal signal in brain stem, BG abnormal signal and atrophy of basal ganglia
^aIndicated that hypomyelination in Patient 11 resolved over time

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