RESUMO
Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease with marked variety in its clinical manifestations. While characteristic neuroimaging and skin biopsy findings are important clues to the diagnosis, autopsy studies are still important for confirming the exact disease features. We herein report the case of a patient who received an antemortem diagnosis of familial NIID with dementia-dominant phenotype that was later confirmed by an autopsy. Our report is the first to document a case of autopsy-confirmed NIID involving both cognitive impairment and sensorimotor neuropathy.
Assuntos
Demência/genética , Demência/patologia , Doenças Neurodegenerativas/genética , Doenças Neurodegenerativas/patologia , Doenças do Sistema Nervoso Periférico/genética , Doenças do Sistema Nervoso Periférico/patologia , Idoso , Autopsia , Biópsia , Encéfalo/patologia , Demência/complicações , Feminino , Genes Dominantes , Humanos , Corpos de Inclusão Intranuclear/genética , Corpos de Inclusão Intranuclear/patologia , Doenças Neurodegenerativas/complicações , Linhagem , Doenças do Sistema Nervoso Periférico/complicações , FenótipoRESUMO
Epilepsy is a common neurological disorder, and mutations in genes encoding ion channels or neurotransmitter receptors are frequent causes of monogenic forms of epilepsy. Here we show that abnormal expansions of TTTCA and TTTTA repeats in intron 4 of SAMD12 cause benign adult familial myoclonic epilepsy (BAFME). Single-molecule, real-time sequencing of BAC clones and nanopore sequencing of genomic DNA identified two repeat configurations in SAMD12. Intriguingly, in two families with a clinical diagnosis of BAFME in which no repeat expansions in SAMD12 were observed, we identified similar expansions of TTTCA and TTTTA repeats in introns of TNRC6A and RAPGEF2, indicating that expansions of the same repeat motifs are involved in the pathogenesis of BAFME regardless of the genes in which the expanded repeats are located. This discovery that expansions of noncoding repeats lead to neuronal dysfunction responsible for myoclonic tremor and epilepsy extends the understanding of diseases with such repeat expansion.
Assuntos
Expansão das Repetições de DNA , Epilepsias Mioclônicas/genética , Repetições de Microssatélites , Proteínas do Tecido Nervoso/genética , Motivo Estéril alfa/genética , Adulto , Idade de Início , Autoantígenos/genética , Sequência de Bases , Epilepsias Mioclônicas/etiologia , Epilepsias Mioclônicas/patologia , Feminino , Instabilidade Genômica , Fatores de Troca do Nucleotídeo Guanina/genética , Humanos , Íntrons , Masculino , Linhagem , Células de Purkinje/patologia , Proteínas de Ligação a RNA/genética , Análise de Sequência de DNARESUMO
We made this report with a view to clarifying the effects of group counseling with visual aids for railway workers enjoying improved health conducted as a part of prevention activities for lifestyle-related diseases such as diabetes. We employed the use of visual aids including slides, samples of blood and the measurement of vascular age on diabetes, and carried out group counseling to improve the interest, knowledge and realization of diabetes and lifestyle. This group counseling was carried out both with and without visual aids. A comparative study of the immediate effects mediated by the use or absence of visual aids was conducted. The workers who accepted our study and cooperated with us totaled 1054 (the average age was 43 +/- 11.2). We divided them at random into the object group and comparative control group and two months later we were able to analyze 190 people among them who could be traced and followed up. As a result of using visual aids, the workers showed much more interest and realization of diabetes and their lifestyles (p < 0.05), and a lower learning decline than the group without visual aids in retention of this knowledge. On the other hand, we have not yet seen improvement in the physical data through group counseling. It is possible that the medical examination data taken beforehand for the object group and the comparative control group were both within the normal range, or the follow-up period was short at only two months after the group counseling was conducted. We conclude that the use of visual aids could lead to a change in consciousness among workers having some confidence in their health as the result of group counseling.
