TABLE 1.

Clinical presentation summary of ataxia cohort.

Cohort	ID #1	ID #2	ID #3	ID #4	ID #5	ID #6	ID #7	ID #8
Gender	M	F	M	M	M	M	F	M
Age (current)	71	84	79	83	76	45	49	86
Age (onset)	56	73	61	75	61	30	43	71
Ethnicity	French/Egypt	Italian	French Canadian	Czech	French Canadian	French Canadian	French Canadian	Polish
SARA score (at evaluation)	12.5 a	7.5 a	9.0 a	18.0 a	6.0 a	1.0 a	0 a	22.0
Episodes	Weekly	Infrequent	Daily	Monthly	3-4x/week	Daily	1-2x/month	Almost daily
Duration	Unknown	15 min	15 min–1 h	30 min	≤15 min	30 min–1 h	30 min	1–2 h
Triggers	Unknown	Unknown	Fatigue Exercises Coffee Hot drinks	Reading	Stress Fatigue	Stress Exercises Alcohol Sudden head movements	Stress Exercises	Fatigue Exercises
Progression	X	X	X	X	X	- b	X	X
Atrophy	Cerebellar Cervical	Cerebellar Bil. Temporal	-	-	-	Cervical (osteophytes)	-	Cerebellar (angioma)
Vertigo	X	-	-	X	-	-	X	-
Eye phenotypes	Smooth pursuit ↓NystagmusOphtalmoparesia	Smooth pursuit ↓ Nystagmus	Smooth pursuit ↓ Nystagmus	Smooth pursuit ↓ NystagmusSaccades (hyper)	Smooth pursuit ↓Nystagmus Saccades (hyper)	Smooth pursuit ↓ Nystagmus Ophtalmoparesia	Smooth pursuit ↓ Nystagmus	Smooth pursuit ↓ Nystagmus
Diplopia	Moderate	Mild	Mild	-	Mild	Mild	-	Mild
Dysarthria	Mild-Moderate	Moderate	Mild	Moderate	Mild	-	-	Mild-Moderate
Dysphagia	-	-	Mild	Mild	-	-	-	Mild
Dysmetria	Mild	Mild	Mild	Mild	Mild	-	-	Mild-Moderate
Reflexes	Hyper	Hyper	Hypo	Hypo	Hyper	-	Hyper	-
Impaired sensory system	Mild-severe auditory	Mild vibratory	Mild vibratory	Severe multiple	Moderate vibratory	-	-	Severe vibratory
Tremor	-	Intention	Mild action	-	Mild postural	-	-	-
Muscle weakness	-	-	X	Lower limb	-	-	-	X
Spasticity	Lower limb (Moderate)	-	-	-	Lower limb (Mild)	-	-	-
Treatment responses	-	-	Acetazolamide ± (stopped)	Acetazolamide ± (stopped)	-	-	Gabapentin ±	Acetazolamide – (stopped)
							Erenumab +
Others	Babinski sign Dyslipidemia ↑ Vitamin E Hearing loss	Lypothymia Cataracts	Falls	Migraines Diabetes	Urinary dysfunction Peritonitis	Headaches Falls	Migraines Ocular pain Endometriosis Asthma	Arythmia Dyslipidemia
Family history	Sister (balance)	-	Father (similar)	-	Son (ID#6) Brother (similar)	Father (ID#5)	Sister (Spastic paraplegia)	-
Gene panel	Mitome-DG e 163 genes (2014) Targeted POLG SCA1-8 (2014)	NGS431 e , d 530 genes (2019) NGS420 g c 531 genes (2021)	NGS324 g 361 genes (2019) NGS431 g c 530 genes (2022)	Ataxia&DD f 197 genes (2018)	Ataxia h 150 genes (2018)	NDD14 f 108 genes (2018) Ataxia&DD f 96 genes (2018)	NGS408 g 362 genes (2019)	NGS324.6 g 113 genes (2015) Targeted KCNA1 CACNA1A (2015)
Negative hits	167 genes	528 genes	530 genes	191 genes	148 genes	200 genes	361 genes	113 genes
Positive hits(Report VUS)	MTO1PCCB CYTB	MTOR c NAGLU c ELOVL4 c	-	RPGRIP1LSCYL1GBA2 DMXL2ACO2PEX2	WFS1RPGRIP1L	WFS1SPG7 SYNE1 (2)MTTP	ITPR1	TTBK2 SYNE1

^a Recorded outside EA spells.

^b No recent progression.

^cOrdered for diagnosis confirmation testing.

^dResults unavailable.

^eGeneDx™.

^fCeGaT™.

^gMNG, Laboratories™.

^hFulgent genetics.