RESUMEN
BACKGROUND AND PURPOSE: CACNA1A encodes the α1 subunit of the neuronal calcium channel P/Q. CACNA1A mutations underlie three allelic disorders: familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6). A clear-cut genotype-phenotype correlation is often lacking since clinical manifestations may overlap. Several case reports have described cognitive and behavioral features in CACNA1A disorders, but studies in larger case series are lacking. METHODS: Genetically confirmed CACNA1A cases were retrieved from the database of the ataxia outpatient clinic of the Department of Neurology at Innsbruck Medical University. Clinical charts and neuropsychological test results were retrospectively analyzed. In addition, a review of the literature including only genetically confirmed cases was performed. RESULTS: Forty-four CACNA1A cases were identified in our database. Delayed psychomotor milestones and poor school performance were described in seven (four FHM1, three EA2) and eight (three FHM1, five EA2) patients, respectively. Psychiatric comorbidities were diagnosed in eight patients (two FHM1, six EA2). Neuropsychological testing was available for 23 patients (11 FHM1, 10 EA2, two SCA6). Various cognitive deficits were documented in 21 cases (all patients except one SCA6). Impairments were predominantly seen in figural memory, visuoconstructive abilities and verbal fluency. In the literature, an early psychomotor delay is described in several children with EA2 and FHM1, whilst reports of cognitive and psychiatric findings from adult cases are scarce. CONCLUSIONS: Neuropsychiatric manifestations are common in episodic CACNA1A disorders. In the case of otherwise unexplained developmental delay and a positive family history, CACNA1A mutations should be considered in the differential diagnosis.
Asunto(s)
Canales de Calcio/genética , Trastornos Mentales/genética , Enfermedades del Sistema Nervioso/genética , Adolescente , Adulto , Ataxia/genética , Ataxia Cerebelosa/genética , Niño , Preescolar , Comorbilidad , Escolaridad , Femenino , Genotipo , Humanos , Masculino , Trastornos Mentales/psicología , Trastornos Migrañosos/genética , Enfermedades del Sistema Nervioso/psicología , Pruebas Neuropsicológicas , Fenotipo , Desempeño Psicomotor , Estudios Retrospectivos , Ataxias Espinocerebelosas/genética , Adulto JovenRESUMEN
The time dependent response of the magnetic and transport properties of Fe-doped phase separated (PS) manganite La(0.5)Ca(0.5)MnO3 is reported. The nontrivial coexistence of ferromagnetic (FM) and non-FM regions induces a slow dynamics which leads to time relaxation and cooling rate dependence within the PS regime. This dynamics influences physical properties drastically. On one hand, metalliclike behavior, assumed to be a fingerprint of percolation, can be also observed before the FM phase percolates as a result of dynamical contributions. On the other hand, two novel effects for the manganites are reported, namely, the rejuvenation of the resistivity after aging and a persistent memory of low magnetic fields (<1 T), imprinted in the amount of the FM phase.