Andrea Poretti,Eugen Boltshauser
Andrea Poretti
Neuroimaging plays a key role in the diagnostic work-up of morphological abnormalities of the cerebellum. Diagnostic criteria for numerous morphological anomalies of the cerebellum are based on neuroimaging findings. Various morphological p...
Maryam Rahimi-Balaei,Pegah Afsharinezhad,Karen Bailey et al.
Maryam Rahimi-Balaei et al.
The cerebellum is important for motor control, cognition, and language processing. Afferent and efferent fibers are major components of cerebellar circuitry and impairment of these circuits causes severe cerebellar malfunction, such as atax...
Dual task effect on postural control in patients with degenerative cerebellar disorders [0.03%]
双任务对退行性小脑病患者的姿势控制的影响
Heike Jacobi,Juliane Alfes,Martina Minnerop et al.
Heike Jacobi et al.
Background: The cerebellum plays an important role for balance control and the coordination of voluntary movements. Beyond that there is growing evidence that the cerebellum is also involved in cognitive functions. How at...
Pseudodominant AOA2 [0.03%]
AOA2假显性遗传
Laurence Newrick,Malcolm Taylor,Marios Hadjivassiliou
Laurence Newrick
We report a mother and daughter with autosomal recessive ataxia with occulomotor apraxia in whom sequence analysis of senataxin revealed a dignosis of AOA2 (ataxia with occulomotor apraxia type 2) in both individuals. The apparent dominant ...
Case Reports
Cerebellum & ataxias. 2015 Apr 30:2:5. DOI:10.1186/s40673-015-0024-0 2015
Peripheral nerve axonal excitability studies: expanding the neurophysiologist's armamentarium [0.03%]
外周神经轴突兴奋性研究：增加电生理学家的手段
William Huynh,Matthew C Kiernan
William Huynh
Nerve excitability studies have emerged as a recent novel non-invasive technique that offers complementary information to that provided by more conventional nerve conduction studies, the latter which provide only limited indices of peripher...
Robert D Sandler,Nigel Hoggard,Marios Hadjivassiliou
Robert D Sandler
A 50-year-old man presented with a brief history of slurred speech, unsteadiness, double vision and paraesthesia. He had been unwell for 12 days with campylobacter gastroenteritis. On examination, there was ophthalmoplegia, nystagmus, arefl...
Schmahmann's syndrome - identification of the third cornerstone of clinical ataxiology [0.03%]
施马霍曼综合征-临床共济失调的第三要素识别
Mario Manto,Peter Mariën
Mario Manto
Schmahmann's syndrome represents a novel clinical condition consisting of a constellation of cognitive and affective deficits following cerebellar disease. The complex was first described in 1998 as cerebellar cognitive affective syndrome (...
Epidemiological, clinical, and molecular characterization of Cuban families with spinocerebellar ataxia type 3/Machado-Joseph disease [0.03%]
古巴脊髓小脑共济失调3型/马查多-约瑟夫病家系的流行病学、临床和分子特征分析
Yanetza González-Zaldívar,Yaimeé Vázquez-Mojena,José M Laffita-Mesa et al.
Yanetza González-Zaldívar et al.
Background: Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD) is a hereditary neurodegenerative disorder resulting from the expansion of CAG repeats in the ATXN3 gene. It is the most common autosomal dominan...
Tandem gait performance in essential tremor patients correlates with cognitive function [0.03%]
小脑性震颤患者的并排步态表现与认知功能相关
Elan D Louis,Ashwini K Rao
Elan D Louis
Background: Emerging yet separate literatures have highlighted gait/balance impairments (i.e., mild ataxia) and cognitive problems in patients with essential tremor (ET). However, the relationship between the two has not ...
Coeliac disease patients do not produce antibodies to a common cerebellar epitope [0.03%]
乳糜泻患者不会产生针对常见小脑表位的抗体
Volga Tarlac,Louise Kelly,Robert P Anderson et al.
Volga Tarlac et al.
Background: Most adult-onset sporadic ataxias are unexplained, and the claim that many of these may be a result of gluten sensitivity has led to uncertainty as to whether to test for anti-gliadin antibodies (αGAb) and, i...