Familial sulfatidosis associated with systemic ponto-cerebellar atrophy: clinical, biochemical, genetic and anatomo-pathological study [SULFATIDOSI FAMILIARE ASSOCIATA AD ATROFIA SISTEMICA PONTOCEREBELLARE: STUDIO CLINICO, BIOCHIMICO, GENETICO ED ANATOMOPATOLOGICO]

A genetic, clinical, biochemical, anatomic and pathological investigation into a family with familiar sulphatidosis and ponto-cerebellar atrophy is reported. The parents were not related. They had three daughters, of whom two presented a clinical picture of spastic tetraplegia and progressive mental deterioration; the other one was normal. Urinary arylsulphatase A (ASA) analysis showed the absence of this enzyme in two propositae. ASA determination in the parents' and in the third sister's leucocytes showed almost normal values. Anatomic and pathological study of the brain of one of the two sisters showed a metachromatic leucodystrophy with destruction of myelinic sheaths, a picture of neuronal tesaurismosis and systemic ponto-cerebellar atrophy. The most crucial evidence from this data, which has not yet been explained, though not new for tesaurismosis, is the concurrence of a sulphatidosis with a systemic ponto-cerebellar atrophy.