Table 2

Autosomal recessive hereditary spastic paraparesis (HSP) and macular pigmentation—summary of previous reports

Author (ref)	Pedigree	HSP onset (y)	Mental retardation	Dementia	Fundal lesions	Amyotrophy of arms	Cerebellar signs	Other features
Webb et al, present study	1	17	Yes	Yes	Yes	Yes	Yes (mild)	Psychosis
		18	Yes	Yes	Yes	Yes	Yes (mild)	Psychosis
		23	Yes	Yes	Yes	Yes	Yes (mild)	Nil
	2	13	Yes	Yes	Yes	Yes	Yes (mild)	Epilepsy
		14	Yes	Yes	Yes	Yes	Yes (mild)	Nil
		16	Yes	Yes	No	Yes	Yes (mild)	Focal dystonia
Farmer et al ¹⁴	1	13	No	Yes	Yes	Yes	No	Dysarthria
		Teens	No	Yes	Not known	Yes	No	No
Sjaastad et al ⁵	1	5	No	Yes	Yes	No	Yes (mild)	No
		29	No	Yes	Yes	No	Yes (mild)	No
		28	No	Yes	Yes	No	No	No
Mahloudji and Chuke⁶ and Farmer et al ⁴	1	35	Yes	No	Yes	No	No	No
		30	Yes	No	Yes	No	Yes (mild)	No
		35	No	No	No	No	No	No
		30’s	No	Yes	Yes	Yes (mild)	No	Dysarthria
		30	No	Yes	Yes	Yes (mild)	No	Dysarthria
Ledic and Van Bogaert⁷	1	10	No	Yes	Yes	Yes	No	Hearing loss
		12	No	No	No	No	No	Sensation loss
		12	No	No	Yes	Yes	No	No
		Not known	No	No	Yes	No	No	No
Kjellin²	1	30	Yes	No	Yes	Yes	No	Hearing loss
		23	Yes	No	Yes	Yes	No	Hearing loss
	2	23	Yes	No	Yes	Yes	No	No
		24	Yes	No	Yes	Yes	No	No
Sjogren and Larsson⁸	1	Infancy	Yes	No	Yes	No	No	Ichthyosis
		Infancy	Yes	No	Yes	No	No	Ichthyosis
	2	Birth	Yes	No	Yes	No	Not known	Ichthyosis
Louis-Bar and Pirot⁹	1	12	No	No	Yes	Yes	No	Syndactyly
		< 10	Not known	Not known	Yes	Not known	Not known	Syndactyly
		Not known	No	Mo	No	No	No	Syndactyly
Schaffer10 11	1	3	No	No	Yes	No	Yes	No
		3	No	No	No	No	Yes	No