Clinical and genetic characteristics of adolescent and adult Krabbe disease / 中华神经科杂志

Objective:To investigate the clinical and genetic characteristics of patients with late-onset subtypes (adolescent or adult) of Krabbe disease.Methods:The clinical data of 7 patients with Krabbe disease admitted to Shanghai Jiao Tong University Affiliated Sixth People′s Hospital and Ruijin Hospital, Shanghai Jiao Tong University School of Medicine from September 2006 to June 2021 were analyzed and Sanger sequencing of the galactosylceramidase (GALC) gene (NM_000153) and detection of the activity of GALC were conducted. A total of 61 cases of Krabbe disease reported in domestic literature were reviewed and summarized.Results:Among the 7 patients with Krabbe disease, there were 4 males and 3 females. All of them had lower limb weakness or walking difficulty as the initial symptoms, and presented as spastic paraplegia. The symptoms were relatively mild in patients with late onset. There were 4 out of 5 patients undergoing magnetic resonance imaging examination, who showed abnormal signals: 2 had brain atrophy and the remaining 2 had white matter lesions. A total of 5 GALC gene mutations were detected by genetic analysis. Among these, c.1901T>C (p.L634S), c.908C>T(p.S303F) and c.461C>A(p.P154H) are known variants, while c.50_51insTT (p.M17Ifs) and c.1130delT(p.L337X) are novel variants reported for the first time in this paper.Conclusions:Krabbe disease is a rare neurodegenerative disease with phenotypic heterogeneity, which is inherited in an autosomal recessive mode. The severity of clinical manifestations of Krabbe disease is correlated with the age of onset.

Effects of gait training with rhythmic auditory stimulation on gait ability in elderly stroke patients / 中华老年医学杂志

Walking disorder is the most common sequela in patients with hemiplegia after stroke.More than half of stroke patients can not walk independently after discharge,and still present a gait asymmetry and slow pace,and other abnormalities.Then,the fall risk is increased.With security concerns,patients are more afraid to walk independently and can not complete the walk in community environment.Therefore,gait rehabilitation is considered as the main goal of stroke rehabilitation.Rhythmic auditory stimulation(RAS)is a new rehabilitation method to improve stroke gait.By elucidating the mechanism of RAS and their effects on stroke gait,the aim of this paper is to explore the effective RAS treatment method for hemiplegic patients,so that RAS is not only used in gait training,but also in real-time assessment of gait in any environment for chronic stroke patients.

Clinical significance of smooth pursuit eye movement in PD patients / 中华老年心脑血管病杂志

Objective To study the clinical significance of smooth pursuit eye movement (SPEM) in primary PD patients.Methods Thirty-two PD patients admitted to our hospital served as a PD group and 30 subjects underging physical examination in our hospital served as a control group in this study.The added SPEM value,types of PD patients,and tremor fraction were recorded.The added SPEM values in different types of PD patients were compared between the two groups.The influencing factors for added SPEM values were analyzed by multivariate linear regression analysis.The added SPEM values were analyzed by ROC curve analysis in PD patients.Results The added SPEM value was significantly lower in PD group than in control group (0.80±0.11 vs 0.91± 0.13,P=0.001).The added SPEM value was significantly different in 3 types of PD patients (P=0.027).The added SPEM value was significantly lower in PD patients with dominant tremor than in those with posture unstable gait (0.7±0.1 vs 0.8±0.1,P＜0.01).The added SPEM value was negatively related with the tremor fraction (P =0.000).The sensitivity and specificity of added SPEM value in diagnosis of PD were 79.2 ％ and 87.5 ％ respectively.The area under the ROC curve was 0.807 (95％ CI.:0.641-0.973,P =0.010).Conclusion The SPEM function is significantly poorer in PD patients with dominant tremor than in those without tremor.The added SPEM value can thus used as a rather good indicator for differential diagnosis of dominant tremor from that of non-dominant tremor in PD patients.

The clinical characteristics and risk factors of frozen gait in Parkinson's disease / 中国医师杂志

Objective o investigate the clinical characteristics and relevant risk factors of freezing gait in patients with Parkinson's disease (PD).Methods A total of 570 consecutive PD patients were registered basic information and evaluated by Unified Parkinson's Disease Rating Scale (UPDRS) and New Freezing of gait questionnaire (NFOG-Q).They were divided into the PD with freezing gait group (188 cases) and non-freezing gait group.Results UPDRS score in each part (UPDRS-Ⅰ,UPDRS-Ⅱ,UPDRS-Ⅲ,UPDRS-Ⅳ) and Hoehn & Yahr stage of the PD freezing gait group was significantly higher than that of the non frozen gait group (P ＜ 0.05).Conclusions PD patients with frozen gait group experience more rapid PD progression than those without freezing of gait.The appearance of FOG is associated with the mental behavior and emotion,treatment complication,disease severity,and course of PD.

Three Cases of Gait Improvement after Rehabilitation Management in Corticobasal Syndrome

Corticobasal syndrome (CBS) is characterized by asymmetric dystonia, and myoclonus accompanied by higher cortical features including apraxia, alien limb phenomena, cortical sensory loss. Here, we report treatment course of 3 CBS patients. Asymmetric dystonia was seen in the first and second cases, a cortical sensory loss was seen in the third case and left lower limb apraxia was common in all cases. In the first and second cases, we performed an alcohol block on the obturator nerve and injected botulinum toxin into the lower leg to reduce dystonia. In the third case, patient was treated with a robotic assisted gait training, whole body therapeutic pool and gait training with laser pointer visual cueing. After appropriate treatment for patients, all 3 cases showed improvement in gait.

Clinical manifestations in eight patients with multiple dilated Virchow-Robin spaces in striatum / 中华神经科杂志

Objective To investigate the clinical feactures of patients with numerous dilated Virchow-Robin space in basal gangalia.Methods Eight patients with cribriform state in striatum in brain MRI at Peking Union Medical College Hospital from March 2013 to October 2013 were enrolled.The clinical data including age,gender,common vascular risk factors and clinical manifestations were analyzed.Cognitive functions,balance and gait disturbance,as well as activity of daily living were assessed.Results All of the eight patients are male,aged from 69 to 80.All the patients had a history of hyperlipidemia,while 7 of them had hypertension.The primary complaint was either gradual motor function decline or memory impairments (3/8),or dizziness (1/8).The other 4 of them were diagnosed as stroke or transient ischemic attack.Among the 8 patients,four had mild deterioration in activity of daily living function (Barthel index 65-85).Cognitive impairment was common (8/8,the Montreal Cognitive Assessment scores 19-27),while word recall was the mostly affected cognitive domain (8/8).Gait and balance dysfunction were found in three patients (3/8,Tinetti scores ≤ 24).Conclusions Man is more likely to have predisposition to cribriform state in striatum.Mild cognitive impairments and gait abnormality are common clinical manifestations of the disease.

Gait analysis in cerebral palsy children / 中国组织工程研究

BACKGROUND:Abnormal gaits are very common in children with cerebral palsy, and how to improve the gait is the focus of rehabilitation therapy. OBJECTIVE:To analyze the biomechanical parameters of gaits in cerebral palsy children and to observe the effects of brace control on the exercise capacity of dyskinetic cerebral palsy children. METHODS:In this paper, we compared the biomechanical parameters of children with cerebral palsy and normal children in the initial process of walking and during walking. Biomechanical parameters in the initial process of walking include spatial and temporal parameters, kinematic and kinetic parameters of the range of motion of the knee and ankle. Biomechanical parameters during walking include spatial and temporal parameters. With the aid of hand brace, dyskinetic cerebral palsy received postural control, gait training, and sling exercise therapy for 3 months. The Gross Motor Function Measure (GMFM-88) assessment and video control were conducted for evaluation of therapeutic efficiency. RESULTS AND CONCLUSION:Biomechanical parameters in the initial process of walking showed significant differences between children with cerebral palsy and normal children except for the peak of ground reaction force at frontal axis with the right foot to start walking. Biomechanical parameters during walking showed that the stance phase and bipedal stance phase were prolonged, while the step length and stride length were shortened in the children with cerebral palsy compared with the normal children. For cerebral palsy children with brace control, the GMFM-88 scores were significantly decreased after treatment, involuntary movements were reduced shown on the video, the neck and body were stable, and life skil s were improved. Children with epilepsy and cognitive impairment or who had imaging changes in the basal ganglia showed a little improvement, and children with dance-athetoid type and dystonia type had a better progress than those with athetoid spasm.

Hidrocefalia de pressão normal: visão atual sobre a fisiopatologia, diagnóstico e tratamento / Normal pressure hydrocephalus: current view on pathophysiology, diagnosis and treatment

Introdução: A hidrocefalia de pressão normal (HPN), descrita em 1964 por Salomón Hakim, é uma doença insidiosa que acomete, sobretudo, idosos e manifesta-se através da tríade clínica de distúrbios da marcha, demência e incontinência urinária, associada a achados radiológicos de ventriculomegalia e achados laboratoriais de pressão liquórica normal. Objetivo: apresentar as principais hipóteses relacionadas à fisiopatologia, diagnóstico por imagem e tratamento da HPN empregadas atualmente. Métodos: a revisão da literatura foi realizada através das bases de dados MEDLINE e PubMed, onde foi utilizado o recurso MeSH(Medical Subject Headings) para a seleção de artigos dos últimos seis anos. Resultados: tanto as bases fisiopatológicas quanto os critérios diagnósticos da HPN ainda não estão totalmente estabelecidos. O principal tratamento consiste na derivação liquórica. Conclusões: é fundamental que o diagnóstico da HPN seja realizado precocemente e que os pacientes com maiores chance de responder à derivação liquórica sejam identificados.

Introduction: The normal pressure hydrocephalus (NPH), described in 1964 by Salomón Hakim, is an insidious disease that affects mainly elderly people and is manifested by the clinical triad of gait disorders, dementia and urinary incontinence associated with radiological findings of ventriculomegaly and laboratory findings of normal CSF pressure. Objective: present the main hypotheses related to the pathophysiology, imaging diagnosis and treatment of NPH in practice today. Methods: the literature review was conducted through MEDLINE and PubMed, where was used the MeSH resource (Medical Subject Headings) for the selection of articles from the last 6 years. Results: both the pathophysiology and diagnostic criteria of NPH has not beenfully established. The main treatment consists of the CSF shunt. Conclusion: it is essential that the diagnosis of NPH be realized early and that patients with higher chance to improve after CSF shunt are identified.

Hidrocefalia de pressão normal: visão atual sobre a fisiopatologia, diagnóstico e tratamento / Normal pressure hydrocephalus: current view on pathophysiology, diagnosis and treatment

A hidrocefalia de pressão normal (HPN), descrita em 1964 por Salomón Hakim, é uma doença insidiosa que acomete, sobretudo, idosos entre 60 e 80 anos e manifesta-se por meio da tríade clínica de distúrbios da marcha, demência e incontinência urinária, associada a achados radiológicos de ventriculomegalia e achados laboratoriais de pressão liquórica normal. Apesar de representar cerca de 5% das causas de demência, ficando atrás da doença de Alzheimer e demência vascular, ao contrário dessas causas a HPN é uma das poucas causas reversíveis de demência, e é por essa reversibilidade que torna fundamental o conhecimento da doença por parte de todos os médicos que cuidam dos pacientes dessa faixa etária. O artigo foi realizado a fim de apresentar as principais hipóteses relacionadas a fisiopatologia, diagnóstico e tratamento da HPN empregadas atualmente. A revisão da literatura foi realizada por meio das bases de dados Medline e PubMed, sendo utilizado o recurso MeSH (Medical Subject Headings) para a combinação dos descritores (hidrocefalia de pressão normal, história, epidemiologia, etiologia, fisiopatologia, diagnóstico e terapia) e seleção de artigos dos últimos seis anos. Tanto as bases fisiopatológicas quanto os critérios diagnósticos da HPN ainda não estão totalmente estabelecidos, porém as principais hipóteses envolvem distúrbios da hemodinâmica e complacência cerebral. O principal tratamento consiste na derivação liquórica, mediante a derivação ventriculoperitoneal e da terceira ventriculostomia endoscópica, sendo fundamental que o diagnóstico da HPN seja realizado precocemente e que os pacientes com maiores chances de responder à derivação liquórica sejam identificados.

The normal pressure hydrocephalus (NPH), described in 1964 by Salomón Hakim, is an insidious disease that affects mainly elderly people between 60 and 80 years and is manifested by the clinical triad of gait disturbances, dementia and urinary incontinence associated the radiological findings of ventriculomegaly and laboratory findings of normal cerebrospinal fluid pressure. Despite representing about 5% of the causes of dementia, behind Alzheimer?s disease and vascular dementia, unlike these causes NPH is one of the few reversible causes of dementia, and it is this reversibility that makes crucial the knowledge of the disease by of all physicians who care of patients in this age group. The paper was developed in order to present the main hypotheses related to the pathophysiology, diagnosis and treatment of NPH in practice today. The literature review was conducted through Medline and PubMed, where was used the MeSH resource (Medical Subject Headings) for the combination of keywords (normal pressure hydrocephalus, history, epidemiology, etiology, pathophysiology, diagnosis and therapy and selection of articles from the last six years. Both the pathophysiology and diagnostic criteria of NPH has not been fully established, but the main hypotheses involve disturbances of cerebral hemodynamics and complacency. The main treatment consists of CSF shunt through the ventriculoperitoneal shunt and endoscopic third ventriculostomy and it?s essential that the diagnosis of NPH be realized early and that patients with higher chance to improve after CSF shunt are identified.