RESUMEN
BACKGROUND: Amyotrophic lateral sclerosis (ALS) coexisting with chorea is very rare. CASE REPORT: We present the case of a 48-year-old man with ALS and chorea; the diagnostic certainty was high based on clinical examination results. Combining the data from literature, we analyzed the characteristics of patients with ALS and chorea. We found that ALS coexisting with chorea is very rare, but is often hereditary with a genetic mutation. Most patients with ALS and chorea are caused by abnormal amplification of a CAG sequence in the HTT gene, and these patients have a mild course of disease. The FUS, VCP, and SETX genes also have low mutation frequencies in patients with ALS and chorea. CONCLUSION: The abnormal amplification of a CAG sequence in the HTT gene in ALS with chorea has an obvious familial genetic tendency, and most patients have a mild disease course.
Asunto(s)
Esclerosis Amiotrófica Lateral , Corea , Masculino , Humanos , Persona de Mediana Edad , Esclerosis Amiotrófica Lateral/complicaciones , Esclerosis Amiotrófica Lateral/diagnóstico , Esclerosis Amiotrófica Lateral/genética , Corea/etiología , Corea/genética , Mutación , Tasa de Mutación , ADN Helicasas/genética , ARN Helicasas/genética , Enzimas MultifuncionalesRESUMEN
OBJECTIVE: To analyze one clinical case of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL), and to perform analysis of the related gene mutation for the proband and her family. METHODS: Analysis of clinical data from the patient diagnosed with CADASIL, including clinical manifestations, blood test results and brain imaging results, followed by high-throughput sequencing of blood samples. Pathogenicity assessment of the gene mutation, and first generation verification were performed on some family members according to genetic variation interpretation standards and guidelines of the American College of Medical Genetics and Genomics (ACMG). RESULTS: Onset of the proband occurred younger than 50-years-old with recurrent migraine attacks and positive family history of migraine and stroke, but without risk factors for cerebrovascular diseases. The craniocerebral magnetic resonance imaging (MRI) results showed diffusive white matter lesions and thus clinically met criteria for CADASIL diagnosis. NOTCH3 gene analysis showed a p.R578C mutation (1732 C > T) at the11th exon on chromosome 19 of the proband and some family members. CONCLUSIONS: NOTCH3 mutation is related to CADASIL. In this study, we observed a rather rare familial NOTCH3 mutation in China. This report further support the mutation site is pathogenic.