Analysis of a case of corticobasal degeneration started with primary progressive aphasia / 中华神经科杂志

Objective:Through a typical case of corticobasal degeneration (CBD) with primary progressive aphasia (PPA) to analyze the clinical characteristics of CBD and the special manifestations of aphasia with that disease.Methods:Retrospective analysis was performed on a patient with PPA based CBD who was admitted to the First Affiliated Hospital, Sun Yat-sen University in July 2020 to summarize the clinical features and diagnostic thinking of CBD.Results:The patient was a 59-year-old male, manifested rapidly progressive dysfunction of language and memory function. The aphasia was mainly featured as slow speech, reduced content and grammatical errors, and diagnosed as PPA, non-fluent grammatical variation. The imaging results showed the atrophy of the left frontal lobe, parietal lobe, basal ganglia and thalamus, coupled with the reduction in 18F-fluorodeoxyglucose radioactive uptake. The patient was finally diagnosed as possible CBD. Conclusions:PPA as the initial manifestation of CBD is very rare in clinical practice. The high non-specificity of clinical features and the lack of typical motor symptoms result in the difficulty of correct diagnosis of CBD. Timely functional imaging in nuclear medicine and reliable biomarkers help to facilitate early diagnosis of atypical CBD.

Clinical features and genetic analysis of a Welander distal myopathy family with a mutation in T-cell intracellular antigen 1 gene / 中华神经科杂志

Objective:To discuss the clinical features of a family with Welander distal myopathy and analyze the genetic characteristics of the T-cell intracellular antigen 1 (TIA1) gene mutation in this family.Methods:The clinical data, electrophysiological and pathological examination results of some family members were collected, and the proband was tested by next generation sequencing techniques to detect possible pathogenic mutations. Sanger sequencing was performed in some family members for the gene mutations closely related to the clinical phenotype.Results:The proband, a 30-year-old man, manifested progressive weakness and muscle atrophy in distal limbs, followed by the involvement of muscles in proximal limbs. A gene mutation of c.91G>A was detected by genetic testing in the TIA1 gene, which was associated with Welander distal myopathy. The further Sanger sequencing revealed the same mutation site in the proband′s mother, one younger brother and his youngest uncle, who showed similar symptoms as the proband including muscle weakness and atrophy. The youngest brother of the proband was a mutation carrier without obvious symptoms, and his electromyography test showed myogenic injuries.Conclusions:Welander′s distal myopathy is a slowly progressing autosomal dominant disorder, characterized by weakness and muscle atrophy mainly in the extremities. In this family, the patients showed the onset in the extremities of the lower limbs and presented weakness and atrophy in distal and proximal limbs, with disease heterogeneity among patients. Genetic testing and the analysis of the family members confirmed the diagnosis of Welander′s distal myopathy and the pathogenic mutation c.91G>A in the TIA1 gene.