ABSTRACT
BACKGROUND/AIMS: Our aim was to investigate a geographical cluster of Huntington's disease (HD) in Ervalia, a Brazilian town of Minas Gerais state (MG). Therefore, we calculated the minimum prevalence of HD in Ervalia, known to have many HD affected families. We also determined the genetic profile of the polymorphic CAG region of the HTT gene in 32 subjects of these affected families. METHODS: A descriptive cross-sectional study was performed, starting in January 2011 until June 2013. Individuals who participated in the survey were all from Ervalia town, MG. RESULTS: The minimum prevalence rate found was 7.2/10,000 people, higher than the worldwide prevalence. CONCLUSION: The minimum prevalence of HD in Ervalia was at least 10.3- to 14.4-fold greater than that of the world population, although it does not represent the overall prevalence of the disease in Brazil. Certainly an expanded survey in the country will lead to a lower prevalence estimate than Ervalia's.
Subject(s)
Huntington Disease/epidemiology , Brazil/epidemiology , Cross-Sectional Studies , Female , Humans , Male , Middle Aged , Prevalence , Surveys and QuestionnairesABSTRACT
Glutamic acid decarboxylase (GAD) is the enzyme responsible for the conversion of glutamate to gamma-aminobutyric acid (GABA) in the central nervous system. The presence of anti-GAD antibody in cerebrospinal fluid and high levels in blood have been described in some neurological disorders, such as stiff person syndrome and cerebellar ataxia. It is postulated that African descent with anti-GAD may exhibit more severe neurological impairment. We report a case of a young adult African descent with cerebellar syndrome associ-ated with ophthalmoplegia and laryngeal stridor. We found in the literature relationship of ophthalmoplegia plus ataxia with anti-GAD, but no reports of these symptoms with laryngeal stridor, apparently being the first reported case.
Descarboxilase do ácido glutâmico (GAD) é a enzima responsável pela conversão do glutamato em ácido gama-aminobutírico (GABA) no sistema nervoso central. A presença do anticorpo anti-GAD no líquido cefalorraquidiano e em altos níveis no sangue tem sido descrita em alguns distúrbios neurológicos, tais como a síndrome da pessoa rígida e ataxia cerebelar. Postula-se que pacientes afrodescendentes podem apresentar comprometimento neurológico mais severo. Relatamos o caso de um adulto jovem afrodescendente com síndrome cerebelar associada a oftalmoplegia e estridor laríngeo. Encontramos na literatura relação entre a oftalmoplegia com ataxia e anti-GAD, mas nenhum relato desses sintomas com estridor laríngeo, sendo aparentemente o primeiro caso reportado.
Subject(s)
Humans , Male , Young Adult , Cerebellar Ataxia/diagnosis , Ophthalmoplegia/diagnosis , Respiratory Sounds , Glutamate Decarboxylase/immunology , Gait Ataxia/diagnosis , Glutamate Decarboxylase/blood , Antibodies/blood , Neurologic Examination/statistics & numerical dataABSTRACT
Syphilis became a rare cause of dementia in the present days. Screeningtests for syphilis are no longer recommended according to 2001.American Academy of Neurology guidelines. On the other hand, as itmay represent a potentially treatable cause in developing countries,the Academia Brasileira de Neurologia recommends laboratory screeningfor syphilis in patients with dementia. The diagnosis of neurosyphilisis established with basis on the clinical setting, along withtreponemal and non-treponemal serum antibodies, and cerebrospinalfluid pattern. Magnetic resonance imaging generally reveals cortical atrophy. Focal signs in the temporal lobes are rarely seen. A case of a young man diagnosed with neurosyphilis is presented, on the basis of neuropsychiatric symptoms, uncommon pupillary changes (Adie's tonic pupil), CSF with positive FTA-abs, and increased IgG index, and additionally mesial temporal lobes hypersignal changes.
Considera-se neurossífilis uma causa rara de demência atualmente.Testes para investigação de sífilis não são mais recomendados deacordo com as orientações da Academia Americana de Neurologia,de 2001. Por outro lado, como pode representar uma causa potencialmente tratável, a Academia Brasileira de Neurologia recomendaa investigação de sífilis em pacientes com demência. O diagnósticode neurossífilis é estabelecido pelo quadro clínico em associaçãocom anticorpos treponêmicos e não treponêmicos, e exame de LCR.Ressonância magnética revela, em geral, atrofia cortical. Presençasde sinais focais em lobos temporais são consideradas raras. É apresentado caso de homem jovem com diagnóstico de neurossífilis combase nas manifestações neuropsiquiátricas, alteração incomum aoexame pupilar (pupila de tônica de Adie), LCR com FTA-abs positivoe índice de IgG elevado, e ainda hipersinal nos lobos temporais mesiais.
