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Objective:To report the clinical, pathological, electrophysiological and genic characteristics of a patient with familial amyloidosis Finnish type.Methods:The clinical characteristic of a 60-year-old female who admitted to Beijing Tiantan Hospital, Capital Medical University in June 2020 was analyzed. Meanwhile, the patient underwent electrophysiological examination, biopsy of labial gland, rectum and skin and gene sequencing analysis.Results:The patient presented left facial paralysis at the age of 50, right facial paralysis and thickening of lips at the age of 55, dysarthria and dysphagia at the age of 56. Physical examination of the patient showed signs of cranial nerves involvement and skin thinning and smoothness. Slit lamp showed corneal lattice dystrophy. Electrophysiological findings of the patient suggested bilateral carpal tunnel syndrome. Latencies were prolonged in bilateral visual evoked potential P100. The deep sensory conduction pathways in bilateral C 7 to biparietal and T 12 to biparietal cortex were abnormal. Pathology of the three biopsies of the patient showed the presence of amyloid deposition in the basement membrane around the glands. The heterozygous mutation of c.654 G>T in exon 4 of gelsolin (GSN) gene in the patient resulted in Asp187 Tyr mutation (p.D187Y). Conclusions:The patient with familial amyloidosis Finnish type was characterized by slowly progressive multiple group cranial neuropathy accompanied by corneal lattice dystrophy and skin changes. Optic nerve and spinal cord posterior funiculus sensory conduction pathway and D187Y mutation of GSN gene were involved.
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Objective To characterize the brain microstructure changes of amyotrophic lateral sclerosis (ALS) patients with various levels of cognitive impairment as measured by diffusion tensor imaging (DTI).Methods A total of 55 ALS patients and 20 healthy controls (HC) were enrolled in the Department of Neurology of Peking Union Medical College Hospital From September 2013 to March 2017,and all participants underwent neuropsychological assessments and DTI scans.According to their cognitive performance,ALS patients were further subclassified into ALS with normal cognition (ALS-Cn,n =27),ALS with cognitive impairment (ALS-Ci,n =17) and ALS-frontotemporal dementia (ALS-FTD,n =11)subgroups.Comparisons of voxel-based and atlas-based fractional anisotropy (FA) and mean diffusivity (MD) data were conducted among the four subgroups.Results In the voxel-based analyses,the FA showed significant differences in cingulate gyms,corpus callosum,brain stem and cerebellum,and MD showed significant differences in bilateral frontal lobe,temporal lobe,cingulate gyms,corpus callosum,and cerebellum among the four subgroups.Besides,when compared to ALS-Ci,ALS-Cn and HC groups in the order,the areas of involvement were larger and differences were more significant in ALS-FTD group.In the atlas-based analyses,the FA and MD of the corticospinal tracts revealed no difference within the patients groups,but decreased FA and increased MD were found compared to HC group.The ALS-IFD patients manifested widespread white matter fiber integrity damage and microstructure impairment in the extramotor areas compared to other three groups.Conclusion The brain white matter structural patterns of ALS patients correlate with their cognitive function,and there is a gradient of alterations across the ALS-Cn,ALS-Ci and ALS-FTD continuum.
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Objective To explore the clinical and electrophysiological characteristics of diabetic lumbosacral radiculoplexus neuropathy (DLRPN). Methods The clinical, electrophysiological and neuroimaging changes in 15 cases of DLRPN were investigated. Results The major clinical manifestations of 13 cases were unilateral or asymmetrical pain and progressive muscular weakness and atrophy of the proximal lower limb. The nerve conduction studies in affected nerves showed absent or reduced compound muscle action potential amplitudes and sensory responses with proportionate slowing of the conduction velocities. F waves and H reflexes were of long latencies or absent. Electromyography of affected muscles showed positive sharp waves and fibrillation potentials involving lumbar paraspinal muscles. Assessment of the motor unit action potentials (MUAPs) revealed high amplitude, long duration, and polyphasic MUAPs with reduced recruitment 50% cases have much lower R-R interval variation. Conclusions DLRPN presents disabling pain and muscular weakness and elctrophysiological examination has a paramount value in the diagnosis and evaluation of this disease