. 2019 Sep 16;9:13381. doi: 10.1038/s41598-019-49821-7

Table 1.

Heterogeneity of neurological phenotypes associated to human VRK1 pathogenic variants.

Patient information	VRK1 pathogenic variants
Patient information	R358X R358X	R358X R358X	R358X R358X	R358X H119R	H119R R321C	R133C R133C	R89Q V236M	G135R L195V
SMA	Distal	—		Distal	Distal	No	Distal	Distal
Clinic/MRI	SMA-PCH1	cortical dysplasia	simplified gyral pattern, and vermian hypoplasia	Sensory-motor axonal neuropathy	ALS	cognitive disorder	Sensory-motor axonal neuropathy	Juvenile ALS?/Sensory-motor axonal neuropathy
PCH	Yes	No	No	No	No	No	No	No
Microcephaly	Yes	Yes	Yes	No	No	No	Yes	Yes
ataxia	Yes	Yes	No	No	No	No	No	No
Mental deficiency	Yes	Yes	No	No	No	Yes	No	No
origin	Ashkenazi	Ashkenazi	Ashkenazi	Ashkenazi	Hispanic	Iranian	European	Unknown (USA)
Age	Childhood	Prenatal	Prenatal	Adult	Adult	Childhood	Childhood	Childhood-adult
No. cases	2	1	1	2	1	1	2	1
Reference	²²	⁸⁸	²⁴	⁴⁶	²⁵	²⁶	²⁴	⁴⁶