TABLE 1.

Clinical presentations and genetic analysis results of 5 HSP probands

Proband no	Sex	AAO (y)	Inheritance	LL weakness	LL plasticity	Reflexia	Intellectual disability	EMG/NCT	Brain MRI	Additional features	Gene	Pathogenic variants	ACMG criteria
1	F	48	AD	+	+	++++	–	normal	normal	dysarthria	SPAST	c.1304C>T (p. Pro435Leu)	Likely pathogenic
2	M	26	AD	+	+	++++	–	normal	normal	constipation	SPAST	c.1245+5G>A	Likely pathogenic
3	M	7	AR	+	+	++++	+	normal	normal	poor social communication skills	B4GALNT1	c.1424C>T (p. Ser475Phe)	Likely pathogenic
												c.1002 + 2 T > G	Likely pathogenic
4	M	12	AR	+	+	+++	+	normal	thin corpus callosum	urinary dysfunction, dysarthria, dysphagia	SPG11	c.5934_5935insTAACCTGGAA (p. Val1979Ter)	Likely pathogenic
5	M	41	AR	+	+	++++	–	normal	normal	—	—	—	—

—, absent; AAO, age at onset; AD, autosomal dominant; AR, autosomal recessive; EMG, electroneuromyography; F, female; LL, lower limb; M, male; MRI, Magnetic Resonance Imaging; NCT, nerve conduction test.