Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report

BMC Neurology

Table 1 Clinical and genetic characteristics of SCA1 patients with biallelic expansions and our patient

		Goldtarb et al., 1996			Sharma et al., 2022		Present study
Clinical data
	Status	Asymptomatic	Symptomatic	Symptomatic	Symptomatic	Symptomatic	Symptomatic
	Age at onset	nc	22	32	na	na	15
	Other clinical data	Age at examination is not provided	Functional stage 2 (loss of domestic skills)	Functional stage 3 (loss of self-care skills)	na	na	Cerebellar ataxia, pyramidal syndrome, dysarthria, SARA-score: 25/40 at age 23
Molecular screening
	Flanking PCR	+	+	+	+	+		+
	Triplet-primed PCR	-	-	-	-	-		+
	Interruption analysis	-	-	-	-	-		+
Results of the molecular analysis
	Larger allele
	Size	54	56	50	48	54		61*
	Interpretation	Pathogenic with full penetrance	Pathogenic with full penetrance	Pathogenic with full penetrance	Pathogenic with full penetrance	Pathogenic with full penetrance		Pathogenic with full penetrance
	Smaller allele
	Size	45	48	44	48	43		37*
	Interpretation	Pathogenic with full penetrance	Pathogenic with full penetrance	Normal interrupted allele OR pathogenic with full penetrance?	Pathogenic with full penetrance	Normal interrupted allele OR pathogenic with full penetrance?		Intermediate allele

na: not available; nc: not concerned; * uninterrupted allele; SARA-score: Scale for the Assessment and Rating of Ataxia score

ISSN: 1471-2377