RESUMO
IMMT gene codes for mitofilin, a mitochondrial inner membrane protein that regulates the morphology of mitochondrial cristae. The phenotype associated with mutations in this gene has not been yet established, but functional studies carried out show that its loss causes a mitochondrial alteration, both in the morphology of the mitochondrial crests and in their function. We present two cousins from an extended highly consanguineous family with developmental encephalopathy, hypotonia, nystagmus due to optic neuropathy. The likely pathogenic homozygous c.895A>G (p.Lys299Glu) variant in the IMMT gene co-segregates with the disease and associates altered mitochondrial cristae observed by electron microscopy.
Assuntos
Homozigoto , Encefalomiopatias Mitocondriais/diagnóstico , Encefalomiopatias Mitocondriais/genética , Proteínas Mitocondriais , Proteínas Musculares , Mutação , Doenças do Nervo Óptico/diagnóstico , Doenças do Nervo Óptico/genética , Alelos , Substituição de Aminoácidos , Biópsia , Consanguinidade , Diagnóstico por Imagem , Predisposição Genética para Doença , Humanos , Lactente , Fenótipo , Avaliação de SintomasRESUMO
INTRODUCTION: Paroxysmal kinesigenic dyskinesia (PKD) is a disorder that is characterised by brief episodes of involuntary movements triggered by other sudden movements. PATIENTS AND METHODS: Here we describe the cases of nine patients from three unrelated families who had PKD in its familial idiopathic form. RESULTS: The majority of the patients (77.7%) were males. The mean age at onset was 10.3 years. All the subjects presented sudden movements as factors that precipitated the crises, which lasted < 10 s in 88.8% of cases. Two thirds (66.6%) of the patients were treated with carbamazepine, phenytoin and valproic acid and all of them responded well. Spontaneous remission occurred in 62.5% of the patients over 20 years of age and in a further 25% there was a significant decrease in the number of crises. CONCLUSIONS: In our sample the proportion of patients who presented spontaneous remission was greater than in that reported in previous studies. As in other series, we found positive responses to antiepileptic drugs other than carbamazepine.