RESUMEN
Isolated behavioural disturbances can mimic psychiatric diseases and delay diagnosis of acute brain disease. We reported the case of a patient with carotid dissection manifesting only with apathetic syndrome that was initially considered as a possible postpartum depression, causing a threatening diagnostic delay.
Asunto(s)
Apatía , Disección de la Arteria Carótida Interna/diagnóstico , Infarto de la Arteria Cerebral Media/diagnóstico , Trastornos Puerperales/diagnóstico , Adulto , Disección de la Arteria Carótida Interna/psicología , Diagnóstico Tardío , Femenino , Humanos , Infarto de la Arteria Cerebral Media/psicología , Angiografía por Resonancia Magnética , Trastornos Puerperales/psicología , SíndromeAsunto(s)
Ataxia Cerebelosa/patología , Cerebelo/patología , Enfermedades Hereditarias del Ojo/patología , Fibrosis/patología , Imagen por Resonancia Magnética , Trastornos de la Motilidad Ocular/patología , Anciano , Ataxia Cerebelosa/genética , Enfermedades Hereditarias del Ojo/genética , Femenino , Fibrosis/genética , Humanos , Masculino , Persona de Mediana Edad , Trastornos de la Motilidad Ocular/genética , LinajeRESUMEN
We report clinical and molecular findings in 14 patients with cleidocranial dysplasia (CCD), a well defined skeletal disorder with characteristic clinical findings and autosomal dominant inheritance. We identified ten heterozygous base changes in the RUNX2 gene, including six novel mutations [c.522insA, c.389G>A (W130X), c.662T>G (V221G), IVS2+T>A, c.1111_1129del19, and c.873_874delCA]. We did not establish a clear correlation between clinical features and genotype, the phenotypes of all patients analyzed falling within the range of variation described in CCD without an effect related to the length of the predicted protein. In two cases, however, a limb-girdle myopathy affecting the shoulder muscles was also identified. Our data add new variants to the repertoire of RUNX2 mutations in CCD.
Asunto(s)
Displasia Cleidocraneal/genética , Mutación , Proteínas de Neoplasias , Factores de Transcripción/genética , Sustitución de Aminoácidos/genética , Células Cultivadas , Subunidad alfa 1 del Factor de Unión al Sitio Principal , Femenino , Fibroblastos/química , Fibroblastos/metabolismo , Mutación del Sistema de Lectura/genética , Humanos , Italia , Masculino , Estudios RetrospectivosRESUMEN
Hereditary spastic paraparesis (HSP) comprises a clinically and genetically heterogeneous group of disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. The past few years have witnessed an exponential increase in knowledge of this disease and we can now list 19 loci mapped on the human genome and eight genes cloned. However, this wider knowledge of the molecular basis of HSP has had limited impact on clinical practice: the use of antispastic drugs and regular physiotherapy still remain crucial in the therapeutic management of patients. Nonetheless, the identification of new genes mutated in HSP furthers comprehension of the pathomechanisms involved and helps in genetic counseling, especially of asymptomatic individuals who request molecular analyses.
