The merit of proton magnetic resonance spectroscopy in the longitudinal assessment of spinocerebellar ataxias and multiple system atrophy-cerebellar type [0.03%]
纵向评估脊髓小脑共济失调和多系统萎缩- cerebellar型的氢质子磁共振波普的价值评估
Hung-Chieh Chen,Jiing-Feng Lirng,Bing-Wen Soong et al.
Hung-Chieh Chen et al.
Background: Spinocerebellar ataxia (SCA) and multiple system atrophy-cerebellar type (MSA-C) often present with similar clinical manifestations in the beginning. Magnetic resonance spectroscopy (MRS) has been proved to be...
Effects of somatosensory stimulation on corticomotor excitability in patients with unilateral cerebellar infarcts and healthy subjects - preliminary results [0.03%]
感觉刺激对单侧小脑梗死患者和健康受试者皮质运动兴奋性的影响-初步结果
Suzete Nascimento Farias da Guarda,Adriana Bastos Conforto
Suzete Nascimento Farias da Guarda
Background: In healthy humans, somatosensory stimulation in the form of 2 h-repetitive peripheral afferent nerve stimulation (SS) increases excitability of the contralateral motor cortex. In this preliminary study, we exp...
Opsoclonus-myoclonus syndrome associated with multiple system atrophy [0.03%]
与多系统萎缩相关的opsoclonus-肌阵挛综合征
Kazumasa Shindo,Akiko Onohara,Takanori Hata et al.
Kazumasa Shindo et al.
Opsoclonus-myoclonus syndrome (OMS) is well known as a paraneoplastic syndrome or as a parainfectious neurologic complication. However, OMS associated with a neurodegenerative disorder has not been described previously. A 48-year-old woman ...
Case Reports
Cerebellum & ataxias. 2014 Nov 1:1:15. DOI:10.1186/s40673-014-0015-6 2014
Ludovico Ciolli,Florian Krismer,Ferdinando Nicoletti et al.
Ludovico Ciolli et al.
Multiple system atrophy is a rare and fatal neurodegenerative disorder characterized by progressive autonomic failure, ataxia and parkinsonism in any combination. The clinical manifestations reflect central autonomic and striatonigral degen...
Irene Sanz-Gallego,Francisco J Rodriguez-de-Rivera,Irene Pulido et al.
Irene Sanz-Gallego et al.
Background: The objective of this clinical open-label trial was to test the safety, tolerability and efficacy of IGF-1 therapy for autosomal dominant cerebellar ataxia (ADCA) patients. ...
The enigmatic linguistic cerebellum: clinical relevance and unanswered questions on nonmotor speech and language deficits in cerebellar disorders [0.03%]
神秘的语言小脑：小脑障碍中非运动性言语和语言缺陷的临床意义及未解之谜
Peter Mariën,Alan Beaton
Peter Mariën
Clinical case descriptions and experimental evidence dating back to the early part of the 19th century from time to time documented a range of nonmotor cognitive and affective impairments following cerebellar pathology. However, a causal re...
Ptolemaios G Sarrigiannis,Nigel Hoggard,Daniel Aeschlimann et al.
Ptolemaios G Sarrigiannis et al.
Background: Cortical myoclonus with ataxia has only rarely been reported in association with Coeliac Disease (CD). Such reports also suggested that it is unresponsive to gluten-free diet. We present detailed electro-clini...
Irene Sanz-Gallego,Ignacio Torres-Aleman,Javier Arpa
Irene Sanz-Gallego
Background: Friedreich's ataxia is an autosomal recessive, severely incapacitating disorder. There is little objective evidence regarding FRDA management. Abnormalities in the insulin/insulin-like growth factor 1 (IGF-1) ...
Zhe Long,Beisha Tang,Hong Jiang
Zhe Long
Polyglutamine (polyQ) diseases are a group of neurodegenerative conditions, induced from CAG trinucleotide repeat expansion within causative gene respectively. Generation of toxic proteins, containing polyQ-expanded tract, is the key proces...
Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum [0.03%]
外显子组测序揭示了一个法国加拿大家庭PMM2基因突变导致的先天性小脑萎缩
Anne Noreau,Philippe Beauchemin,Alexandre Dionne-Laporte;FORGE Canada;Patrick A Dion et al.
Anne Noreau et al.
Two affected and one unaffected siblings from a French-Canadian family were evaluated in our neurogenetic clinic. The oldest brother had intentional and postural hand tremor while his youngest sister presented mild ataxia, a similar hand tr...
Case Reports
Cerebellum & ataxias. 2014 Jul 4:1:8. DOI:10.1186/2053-8871-1-8 2014