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.

Anxiety and depression of patients with amyotrophic lateral sclerosis / 现代临床护理

Objective To study the anxiety and depression in patients with amyotrophic lateral sclerosis(ALS).Method One hundred and seventy-four ALS patients were evaluated by self-rating anxiety scale(SAS)and self-rating depression scale(SDS) to study the anxiety and depression in them.Results In 174 ALS patients,21 had anxiety(12.07%)and 65 the depression(37.36%). The scores of SAS and SDS in the ALS patients were significantly higher than the national norm(P<0.05).The depression incidence in the female patients was significantly higher than the male(P<0.05).Conclusions Anxiety and depression are more severe than those in ALS patients than those in normal people.Psychological support is important for these patients,especially for those female patients.

Clinical characteristics of adult-onset type Ⅱ citrullinemia: one case report / 中华神经科杂志

Objective To enhance clinicians' intention to the importance of early diagnosis,early therapy and follow-up of type Ⅱ citrullinemia.Methods The clinical data of one adult-onset type Ⅱ citrullinemia pedigree were collected. The gene mutation type of SLC25A13 of proband and her daughter were determined by PCR and direct gene sequencing.Results The patient was a 27 years-old female,who complained of repeated dizziness, vomiting for more than 2 years and recurrent attacks of altered consciousness for about one and a half year.An abdominal ultrasonogram,liver magnetic resonance imaging and liver histology obtained by needle biopsy all determined the liver pathological changes of liver cirrhosis.Electroencephalogram showed sharp waves. The plasma amino acid showed a marked elevation of blood citrulline.Laboratory findings revealed a highly increased concentration of plasma ammonia during every episode. Mutation analysis of the SLC25A13 gene identified a homozygote of 851del4 in the patient,and heterozygote of 851del4 in her daughter. Conclusions For adults,unexplained dizziness,vomiting,but liver function still in the compensation,especially accompanied by neuropsychologic symptoms are highly suggestive of adult-onset type Ⅱ citrullinemia.SLC25A13 gene analysis contributes to the diagnosis of this disease,avoids invasive investigations and early confirmation of this disease means long-term dietary advice,genetic counseling,medical surveillance and early preparation for liver transplantation if is necessary.