Familial forms of multiple sclerosis and neuromyelitis optica at an MS center in Rio de Janeiro State, Brazil

To describe familial forms of demyelinating diseases from an MS referral center in Río de Janeiro State, Brazil.

A descriptive, cross-sectional study was done to identify familial IIDD cases in Hospital da Lagoa, a public hospital where 75% of patients with IIDD who live in Rio de Janeiro state, located in the Southeast region of Brazil, are referred. The diagnoses of all consecutive patients followed in 2011 were reviewed to apply new diagnostic criteria (Wingerchuk et al., 2008). The diagnosis of IIDD was confirmed based on clinical history, neurological examination, MRI of the skull and spinal cord, CSF analysis and investigation of IgG NMO antibodies. The cases that had at least one other relative with IIDD were selected for the study.

Familial forms were found only in the multiple sclerosis (MS) and neuromyelitis optica syndrome (NMOSD) categories. 23 MS families were identified, 60.86% with first degree kinship. It has a Caucasian preponderance, 90% of whom were white. The frequency of early onset was 15% and 20% of the MSf cases have progressive primary course.

The frequency of familial cases of IIDD was 6.12% among MS patients and 2.8% in NMO spectrum syndromes.