Amyotrophic lateral sclerosis(ALS)is a neuromuscular condition resulting from the progressive degeneration of motor neurons in the cortex,brainstem,and spinal cord.While the typical clinical phenotype of ALS involves ...Amyotrophic lateral sclerosis(ALS)is a neuromuscular condition resulting from the progressive degeneration of motor neurons in the cortex,brainstem,and spinal cord.While the typical clinical phenotype of ALS involves both upper and lower motor neurons,human and animal studies over the years have highlighted the potential spread to other motor and non-motor regions,expanding the phenotype of ALS.Although superoxide dismutase 1(SOD1)mutations represent a minority of ALS cases,the SOD1 gene remains a milestone in ALS research as it represents the first genetic target for personalized therapies.Despite numerous single case reports or case series exhibiting extramotor symptoms in patients with ALS mutations in SOD1(SOD1-ALS),no studies have comprehensively explored the full spectrum of extramotor neurological manifestations in this subpopulation.In this narrative review,we analyze and discuss the available literature on extrapyramidal and non-motor features during SOD1-ALS.The multifaceted expression of SOD1 could deepen our understanding of the pathogenic mechanisms,pointing towards a multidisciplinary approach for affected patients in light of new therapeutic strategies for SOD1-ALS.展开更多
BACKGROUND Bow hunter’s syndrome(BHS)is a rare but surgically treatable cause of vertebrobasilar insufficiency due to dynamic rotational occlusion of the vertebral artery.Typically,patients present with posterior cir...BACKGROUND Bow hunter’s syndrome(BHS)is a rare but surgically treatable cause of vertebrobasilar insufficiency due to dynamic rotational occlusion of the vertebral artery.Typically,patients present with posterior circulation transient ischaemic symptoms such as presyncope,syncope,vertigo,diplopia,and horizontal nystagmus,but irreversible deficits,including medullary and cerebellar infarctions,have also been described.CASE SUMMARY A 70-year-old patient presented an acute onset of vertigo and gait instability triggered by right head rotation.His medical history included previous episodes of unilateral left neck and occipital pain followed by light-headedness,sweating,and blurred vision when turning his head,and these episodes were associated with severe degenerative changes in the atlanto-dens and left atlanto-axial facet joints and right rotation of the C2 cervical vertebrae.Brain magnetic resonance imaging revealed the presence of acute bilateral cerebellar ischaemic lesions,while static vascular imaging did not reveal any vertebral artery abnormalities.Dynamic ultrasonography and angiography were performed and confirmed the presence of a dynamic occlusion of the vertebral artery V3-V4 segment when the head was rotated to the right secondary to left C1-C2 bone spur compression.Surgical decompression led to complete resolution of paroxysmal symptoms without neurological sequelae.CONCLUSION BHS should be considered in cases of repeated posterior circulation transient ischaemic attack or ischaemic stroke,particularly when associated with high cervical spine abnormalities.展开更多
文摘Amyotrophic lateral sclerosis(ALS)is a neuromuscular condition resulting from the progressive degeneration of motor neurons in the cortex,brainstem,and spinal cord.While the typical clinical phenotype of ALS involves both upper and lower motor neurons,human and animal studies over the years have highlighted the potential spread to other motor and non-motor regions,expanding the phenotype of ALS.Although superoxide dismutase 1(SOD1)mutations represent a minority of ALS cases,the SOD1 gene remains a milestone in ALS research as it represents the first genetic target for personalized therapies.Despite numerous single case reports or case series exhibiting extramotor symptoms in patients with ALS mutations in SOD1(SOD1-ALS),no studies have comprehensively explored the full spectrum of extramotor neurological manifestations in this subpopulation.In this narrative review,we analyze and discuss the available literature on extrapyramidal and non-motor features during SOD1-ALS.The multifaceted expression of SOD1 could deepen our understanding of the pathogenic mechanisms,pointing towards a multidisciplinary approach for affected patients in light of new therapeutic strategies for SOD1-ALS.
文摘BACKGROUND Bow hunter’s syndrome(BHS)is a rare but surgically treatable cause of vertebrobasilar insufficiency due to dynamic rotational occlusion of the vertebral artery.Typically,patients present with posterior circulation transient ischaemic symptoms such as presyncope,syncope,vertigo,diplopia,and horizontal nystagmus,but irreversible deficits,including medullary and cerebellar infarctions,have also been described.CASE SUMMARY A 70-year-old patient presented an acute onset of vertigo and gait instability triggered by right head rotation.His medical history included previous episodes of unilateral left neck and occipital pain followed by light-headedness,sweating,and blurred vision when turning his head,and these episodes were associated with severe degenerative changes in the atlanto-dens and left atlanto-axial facet joints and right rotation of the C2 cervical vertebrae.Brain magnetic resonance imaging revealed the presence of acute bilateral cerebellar ischaemic lesions,while static vascular imaging did not reveal any vertebral artery abnormalities.Dynamic ultrasonography and angiography were performed and confirmed the presence of a dynamic occlusion of the vertebral artery V3-V4 segment when the head was rotated to the right secondary to left C1-C2 bone spur compression.Surgical decompression led to complete resolution of paroxysmal symptoms without neurological sequelae.CONCLUSION BHS should be considered in cases of repeated posterior circulation transient ischaemic attack or ischaemic stroke,particularly when associated with high cervical spine abnormalities.
