RESUMO
Posterior cortical atrophy (PCA) is a rare neurodegenerative syndrome characterized by initial predominant visuoperceptual deficits followed by a progressive decline in other cognitive functions. This syndrome has not been as thoroughly described as other dementias, particularly from a neuropsychological evolution perspective with only a few studies describing the evolution of its cognitive progression. In this investigation we review the literature on this rare condition and we perform a 7-year neuropsychological and neuroradiological follow-up of a 64-year-old man with PCA. The subject's deficits initially appeared in his visuoperceptual skills with later affectation appearing in language and other cognitive functions, this being coherent with the patient's parieto-temporal atrophy evolution.
Assuntos
Encefalopatias/complicações , Córtex Cerebral/diagnóstico por imagem , Transtornos Cognitivos/etiologia , Transtornos da Percepção/etiologia , Atrofia/complicações , Atrofia/diagnóstico por imagem , Encefalopatias/genética , Transtornos Cognitivos/diagnóstico por imagem , Transtornos Cognitivos/genética , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Neuroimagem , Testes Neuropsicológicos , Transtornos da Percepção/genética , Percepção Visual/fisiologiaRESUMO
Abnormal sensory processing seems to be involved in hyperhidrosis. To test this hypothesis, we investigated tactile acuity and cortical plastic changes in patients with primary hyperhidrosis (PH) and their asymptomatic relatives. We studied thirteen subjects belonging to two families with PH and thirteen age-matched healthy controls using Johnson-Van Boven-Phillips domes before and after 45min of transient visual deafferentation. Spatial discrimination thresholds (SDTs) were lower in controls than in the familial group (1.08+/-0.25 vs 1.59+/-0.71; p=0.0032). After 45min of light deprivation and blindfolding, SDTs decreased significantly in controls (0.83+/-0.3; p=0.003), but not in patients (1.4+/-0.62; p=0.108). Interestingly, two subjects without clinical complaints of hyperhidrosis had abnormal SDTs behavior after short term visual deprivation. This study demonstrates that sensory processing is abnormal in PH, with a lack of plastic cortical somatosensory changes regardless of clinical condition. These modulatory abnormalities would affect gating processes in the somatosensory cortex which may play a role in maintaining hyperhidrosis.
Assuntos
Hiperidrose/complicações , Hiperidrose/genética , Plasticidade Neuronal/genética , Transtornos da Percepção/genética , Transtornos da Percepção/fisiopatologia , Tato/genética , Adolescente , Adulto , Sinais (Psicologia) , Análise Mutacional de DNA , Retroalimentação/fisiologia , Feminino , Testes Genéticos , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Inibição Neural/genética , Exame Neurológico , Testes Neuropsicológicos , Linhagem , Transtornos da Percepção/diagnóstico , Estimulação Física , Privação Sensorial/fisiologia , Limiar Sensorial/fisiologia , Córtex Somatossensorial/fisiopatologia , Percepção Espacial/fisiologia , Percepção Visual/fisiologiaRESUMO
OBJECTIVES: Infantile nephropathic cystinosis is associated with a specific cognitive deficit in visual spatial processing in older children and adults. The cause of this deficit is unknown. This study was designed to determine whether the cognitive deficit is present in young children with cystinosis, suggesting an early effect of the genetic disorder on brain development. STUDY DESIGN: Young children (n = 25; age, 3-8 years) with cystinosis and 25 matched control subjects underwent cognitive testing, including tests of intelligence, visual perceptual, visual spatial, and visual motor functions. RESULTS: Children with cystinosis performed significantly more poorly on tests of visual spatial and visual motor function than did control subjects. Visual perceptual abilities were equivalent in the 2 groups. CONCLUSION: The same pattern of visual spatial deficit is present in young children with cystinosis as has previously been demonstrated in older children and adults, which suggests that there may be an influence of the cystinosis gene on brain development, rather than an adverse effect of prolonged cystine accumulation in the brain during childhood.