Table 1.

ANXA11 VUS cases and clinical presentations

Patient Number	Mutation	Age	First Symptom	Clinical Features	MRI Findings	CSF
1	P93S	60–77	Right leg spasticity	Bradykinesia, asymmetric spasticity, dystonia, apraxia, dysphagia, dysarthria	WMH Spinal WMH Central predominant atrophy Corpus callosum thinning	Elevated protein Elevated IgG and IgG index Negative Oligoclonal bands Elevated CD4 + CD8 + T-cells
2	P93S	50–79*	Right leg spasticity	Apraxia, dystonia, cortical sensory loss, alien limb	WMH Spinal WMH Central predominant atrophy Corpus callosum thinning	Elevated protein Elevated IgG Negative Oligoclonal bands Elevated CD4 + CD8 + T-cells
3	P93S**	Unknown-49	Lower extremity dysfunction	Tremor, dysarthria, dystonia	WMH	N/A
4	P93S**	Unknown-60	Lower extremity dysfunction	Spasticity, dysarthria, dysphagia, dystonia	N/A	N/A
5	G189E	51–66	Lower extremity spasticity	Dysarthria, dysphagia	WMH	Elevated IgG Matched serum and CSF oligoclonal bands
6	Y103H	59	Left arm apraxia	Corticobasal syndrome	Central predominant atrophy Corpus callosum thinning	N/A
7	R404W	N/A	N/A	Corticobasal syndrome	WMH Central predominant atrophy Corpus callosum thinning	N/A
8	S55L	N/A	Behavioral variant frontotemporal dementia	Parkinsonism	Central predominant atrophy	N/A
9	S55L**	N/A	Spasticity	Cortical sensory loss Dysphagia	N/A	N/A

WMH: T2 FLAIR white matter hyperintensities; N/A: not available

^*Still alive

^**Presumed mutation; no genetic testing available