Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene.

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.

[Familial idiopathic paroxysmal kinesigenic dyskinesia: its natural history and a descriptive study in three Spanish families]. / Discinesia paroxistica cinesigenica idiopatica familiar: evolucion natural y estudio descriptivo en tres familias espanolas.

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.

Discinesia paroxística cinesigénica idiopática familiar: evolución natural y estudio descriptivo en tres familias españolas / Familial idiopathic paroxysmal kinesigenic dyskinesia: its natural history and a descriptive study in three Spanish families

Introducción. La discinesia paroxística cinesigénica (DPC) es un trastorno caracterizado por episodios breves de movimientos involuntarios inducidos por movimientos súbitos. Pacientes y métodos. Se describe a nueve pacientes pertenecientes a tres familias no relacionadas, afectados de DPC en su forma idiopática familiar. Resultados. Un 77,7 % de los pacientes son varones. La edad media de inicio es 10,3 años. Todos los sujetos presentaban movimientos súbitos como desencadenante de la crisis. La duración de éstas fue < 10 s en el 88,8% de los casos. Un 66,6% de los pacientes recibió tratamiento con carbamacepina, fenitoína y ácido valproico; en todos los casos se obtuvo una buena respuesta. En el 62,5% de los pacientes mayores de 20 años se ha producido una remisión espontánea y en un 25% una disminución significativa del número de crisis. Conclusiones. En nuestra muestra hay una proporción mayor de pacientes que presentan una remisión espontánea respecto a lo descrito en estudios anteriores. Al igual que en otras series, encontramos respuestas positivas a otros fármacos antiepilépticos diferentes de la carbamacepina (AU)

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 (AU)