A novel complex neurological phenotype due to a homozygous mutation in FDX2.

Defects in iron-sulphur [Fe-S] cluster biogenesis are increasingly recognized as causing neurological disease. Mutations in a number of genes that encode proteins involved in mitochondrial [Fe-S] protein assembly lead to complex neurological phenotypes. One class of proteins essential in the early cluster assembly are ferredoxins.

Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.

SPOAN syndrome is a neurodegenerative disorder mainly characterized by spastic paraplegia, optic atrophy and neuropathy (SPOAN). Affected patients are wheelchair bound after 15 years old, with progressive joint contractures and spine deformities. SPOAN patients also have sub normal vision secondary to apparently non-progressive congenital optic atrophy.

Combined nerve conduction index in diabetic polyneuropathy.

Unlabelled: Diabetic polyneuropathy can be confirmed by nerve conduction studies. The data can be analyzed in the form of a combined index instead of individual parameters.

Methods: The combined index included five parameters of nerve conduction studies commonly used for evaluation of polyneuropathies.

Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes.

SPOAN is an autosomal recessive neurodegenerative disorder which was recently characterized by our group in a large inbred Brazilian family with 25 affected individuals. This condition is clinically defined by: 1. congenital optic atrophy; 2.

Plesiomonas shigelloides and Aeromonadaceae family pathogens isolated from marine mammals of Southern and Southeastern Brazilian coast.

The aquatic environment is the habitat of many microorganisms, including Plesiomonas shigelloides and Aeromonas species which are pathogenic to human and animals. In the present investigation, we evaluated the occurrence of these pathogens from marine mammals beached or accidentally captured by fishing net in southeastern (RJ) and southern (RS) coastal Brazilian regions. A total of 198 swabs from 27 specimens of marine mammals, including 11 different species, were collected by DEENSP and GEMARS-CECLIMAR/ UFRGS Institutes and sent to LRNCEB/IOC/FIOCRUZ.

[Characterization of Aeromonas spp isolates from newborns hospitalized].

Aeromonas spp is recognized as pathogenic to humans after consumption of contaminated water and food. In the present investigation, 2,323 rectal swab samples from newborns hospitalized in Rio de Janeiro were evaluated with a view to isolating Aeromonas. The samples were collected and sent to the national reference laboratory for cholera and other bacterial intestinal infections, at the Oswaldo Cruz Institute of the Oswaldo Cruz Foundation.

Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13.

We report an autosomal recessive neurodegenerative disorder in 25 white members from a large inbred Brazilian family, 22 of whom were evaluated clinically. This condition is characterized by (1) subnormal vision secondary to apparently nonprogressive congenital optic atrophy; (2) onset of progressive spastic paraplegia in infancy; (3) onset of progressive motor and sensory axonal neuropathy in late childhood/early adolescence; (4) dysarthria starting in the third decade of life; (5) exacerbated acoustic startle response; and (6) progressive joint contractures and spine deformities. Motor handicap was severe, and all patients were wheelchair bound after 15 years old.