Complicated spastic paraplegia with sex-linked inheritance (report of a family)
Galassi, G.; Penne, A.; Colombo, A.; Forabosco, A.
Acta Neurologica 32(6): 746-756
1977
ISSN/ISBN: 0001-6276 PMID: 605830 Document Number: 110385
A kinship is reported which presented through 3 successive generations neurological symptoms corresponding to the picture of familial spastic paraplegia. Only males were affected. The symptomatology began in the 1st or 2nd childhood and became worse in a later age. Symptoms common to all patients were the following: spastic paraplegia particularly affecting the lower limbs; disturbance of the deep sensibility; horizontal motor defect nystagmus; and reduced visual acuity, in some cases caused by nystagmus and in others by optic atrophy. Inconstant symptoms were the following: cerebellar dismetry of the upper limbs and feeble-mindedness of a mild degree. A latent diabetes was present in all the examined members of the family, also in those free from neurological symptoms. The genetic transmission of this disease is suggestive for a recessive X-linked inheritance, of which only rare examples can be found in literature. The findings of this kinship and a review of the literature support the view that, besides a pure form of X-linked inherited spastic paraplegia, a form complicated by other neurological and ophthalmological symptoms exists. The reported family belongs to this last form.