Table 1 Open in new tab Clinical...

ID	Gender	Age at onset	Age at examination	Sensory neuronopathy (clinical)	Sensory neuronopathy (NCS)	Bilateral vestibular areflexia (clinical - abolished VOR at HIT)	Bilateral vestibular areflexia (vestibular testing)	Cerebellar dysfunction (clinical)	Cerebellar atrophy on MRI	Cough	Initial diagnosis considered	Revised diagnosis
Subjects with biallelic pathogenic expansions
R110358	M	50	60	Yes	Yes	Yes	NA	Yes	NA	Yes	HSN with cough	CANVAS
R60355	M	41	62	Yes	Yes	NA	NA	No	NA	Yes	HSN with cough and gastro-oesophageal reflux
R19975	F	60	63	Yes	Yes	Yes	Yes, cVEMP not obtainable, ocular VEMPs not obtainable on the right side	Yes	No	NA	Sjögren’s ganglionopathy	CANVAS
R19982	F	54	67	Yes	Yes	Yes	NA	Yes	Yes	Yes	Inherited spastic ataxia with neuropathy	CANVAS
R200002	M	49	55	Yes	Yes	Yes	VEMPs absent	Yes	NA	Yes	CANVAS
Subjects with a single heterozygous pathogenic expansion
R19955	M	58	73	Yes	Yes	Yes	VEMPs, caloric testing responses absent bilaterally	Yes	Yes	Yes	Neuropathy related to insulin resistance, paraneoplastic neuropathy	CANVAS
R19954	F	63	79	No	No	NA	VEMPs normal	Yes	No	NA	Hereditary cerebellar ataxia
R190103	F	41	60	No	NA	NA	NA	Yes	Yes	NA	Hereditary cerebellar ataxia

Gender

Age at onset

Age at examination

Sensory neuronopathy (clinical)

Sensory neuronopathy (NCS)

Bilateral vestibular areflexia (clinical - abolished VOR at HIT)

Bilateral vestibular areflexia (vestibular testing)

Cerebellar dysfunction (clinical)

Cerebellar atrophy on MRI

Cough

Initial diagnosis considered

Revised diagnosis

Subjects with biallelic pathogenic expansions

R110358

Yes

HSN with cough

CANVAS

R60355

Yes

HSN with cough and gastro-oesophageal reflux

R19975

Yes

Yes, cVEMP not obtainable, ocular VEMPs not obtainable on the right side

Yes

Sjögren’s ganglionopathy

CANVAS

R19982

Yes

Inherited spastic ataxia with neuropathy

CANVAS

R200002

Yes

VEMPs absent

Yes

CANVAS

Subjects with a single heterozygous pathogenic expansion

R19955

Yes

VEMPs, caloric testing responses absent bilaterally

Yes

Neuropathy related to insulin resistance, paraneoplastic neuropathy

CANVAS

R19954

VEMPs normal

Yes

Hereditary cerebellar ataxia

R190103

Yes

Hereditary cerebellar ataxia

ID	Gender	Age at onset	Age at examination	Sensory neuronopathy (clinical)	Sensory neuronopathy (NCS)	Bilateral vestibular areflexia (clinical - abolished VOR at HIT)	Bilateral vestibular areflexia (vestibular testing)	Cerebellar dysfunction (clinical)	Cerebellar atrophy on MRI	Cough	Initial diagnosis considered	Revised diagnosis
Subjects with biallelic pathogenic expansions
R110358	M	50	60	Yes	Yes	Yes	NA	Yes	NA	Yes	HSN with cough	CANVAS
R60355	M	41	62	Yes	Yes	NA	NA	No	NA	Yes	HSN with cough and gastro-oesophageal reflux
R19975	F	60	63	Yes	Yes	Yes	Yes, cVEMP not obtainable, ocular VEMPs not obtainable on the right side	Yes	No	NA	Sjögren’s ganglionopathy	CANVAS
R19982	F	54	67	Yes	Yes	Yes	NA	Yes	Yes	Yes	Inherited spastic ataxia with neuropathy	CANVAS
R200002	M	49	55	Yes	Yes	Yes	VEMPs absent	Yes	NA	Yes	CANVAS
Subjects with a single heterozygous pathogenic expansion
R19955	M	58	73	Yes	Yes	Yes	VEMPs, caloric testing responses absent bilaterally	Yes	Yes	Yes	Neuropathy related to insulin resistance, paraneoplastic neuropathy	CANVAS
R19954	F	63	79	No	No	NA	VEMPs normal	Yes	No	NA	Hereditary cerebellar ataxia
R190103	F	41	60	No	NA	NA	NA	Yes	Yes	NA	Hereditary cerebellar ataxia

Table 1

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Clinical features of individuals with pathogenic RFC1 expansions

ID	Gender	Age at onset	Age at examination	Sensory neuronopathy (clinical)	Sensory neuronopathy (NCS)	Bilateral vestibular areflexia (clinical - abolished VOR at HIT)	Bilateral vestibular areflexia (vestibular testing)	Cerebellar dysfunction (clinical)	Cerebellar atrophy on MRI	Cough	Initial diagnosis considered	Revised diagnosis
Subjects with biallelic pathogenic expansions
R110358	M	50	60	Yes	Yes	Yes	NA	Yes	NA	Yes	HSN with cough	CANVAS
R60355	M	41	62	Yes	Yes	NA	NA	No	NA	Yes	HSN with cough and gastro-oesophageal reflux
R19975	F	60	63	Yes	Yes	Yes	Yes, cVEMP not obtainable, ocular VEMPs not obtainable on the right side	Yes	No	NA	Sjögren’s ganglionopathy	CANVAS
R19982	F	54	67	Yes	Yes	Yes	NA	Yes	Yes	Yes	Inherited spastic ataxia with neuropathy	CANVAS
R200002	M	49	55	Yes	Yes	Yes	VEMPs absent	Yes	NA	Yes	CANVAS
Subjects with a single heterozygous pathogenic expansion
R19955	M	58	73	Yes	Yes	Yes	VEMPs, caloric testing responses absent bilaterally	Yes	Yes	Yes	Neuropathy related to insulin resistance, paraneoplastic neuropathy	CANVAS
R19954	F	63	79	No	No	NA	VEMPs normal	Yes	No	NA	Hereditary cerebellar ataxia
R190103	F	41	60	No	NA	NA	NA	Yes	Yes	NA	Hereditary cerebellar ataxia

ID	Gender	Age at onset	Age at examination	Sensory neuronopathy (clinical)	Sensory neuronopathy (NCS)	Bilateral vestibular areflexia (clinical - abolished VOR at HIT)	Bilateral vestibular areflexia (vestibular testing)	Cerebellar dysfunction (clinical)	Cerebellar atrophy on MRI	Cough	Initial diagnosis considered	Revised diagnosis
Subjects with biallelic pathogenic expansions
R110358	M	50	60	Yes	Yes	Yes	NA	Yes	NA	Yes	HSN with cough	CANVAS
R60355	M	41	62	Yes	Yes	NA	NA	No	NA	Yes	HSN with cough and gastro-oesophageal reflux
R19975	F	60	63	Yes	Yes	Yes	Yes, cVEMP not obtainable, ocular VEMPs not obtainable on the right side	Yes	No	NA	Sjögren’s ganglionopathy	CANVAS
R19982	F	54	67	Yes	Yes	Yes	NA	Yes	Yes	Yes	Inherited spastic ataxia with neuropathy	CANVAS
R200002	M	49	55	Yes	Yes	Yes	VEMPs absent	Yes	NA	Yes	CANVAS
Subjects with a single heterozygous pathogenic expansion
R19955	M	58	73	Yes	Yes	Yes	VEMPs, caloric testing responses absent bilaterally	Yes	Yes	Yes	Neuropathy related to insulin resistance, paraneoplastic neuropathy	CANVAS
R19954	F	63	79	No	No	NA	VEMPs normal	Yes	No	NA	Hereditary cerebellar ataxia
R190103	F	41	60	No	NA	NA	NA	Yes	Yes	NA	Hereditary cerebellar ataxia

CANVAS = cerebellar ataxia, neuropathy, and vestibular areflexia syndrome; cVEMP = vestibular evoked myogenic potentials elicited from the sternocleidomastoid muscle (cervical); F = female; HIT = head impulse test; HSN = hereditary sensory neuropathy; M = male; NA = not available; NCS = nerve conduction study; VEMP = vestibular evoked myogenic potential; VOR = vestibulo-ocular reflex.

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