Frequency of Spinocerebellar Ataxia type 1, 2, 3,6 and 7 and clinical profile of Spinocerebellar Ataxia type 3 in Malaysia [0.03%]
马来西亚脊髓小脑共济失调1，2，3，6和7型的频率以及脊髓小脑性共济失调3型的临床特征
Norlinah Mohamed Ibrahim,Yue Hui Lau,Noorasyikin Ariffin et al.
Norlinah Mohamed Ibrahim et al.
Spinocerebellar ataxias (SCA) are highly heterogenous group of neurodegenerative diseases causing progressive cerebellar dysfunction. We report the first description of relative frequencies of the common SCA mutations and of phenotypic char...
Laure Bastide,Anne-Geneviève Herbaut
Laure Bastide
Aims: Micturition depends on a complex voluntary and involuntarily neuronal network located at various levels of the nervous system. The mechanism is highly dependent on the hierarchical organization of central nervous sy...
Sprinting into the field of neuro-ophthalmology from the streets of Brooklyn [0.03%]
从布鲁克林的街头奔向神经眼科领域
Steven L Galetta
Steven L Galetta
A pilot study of essential tremor: cerebellar GABA+/Glx ratio is correlated with tremor severity [0.03%]
原发性震颤的初步研究：谷氨酸和γ-氨基丁酸在小脑中的比值与震颤严重程度相关性研究
Sofie Tapper,Nathanael Göransson,Peter Lundberg et al.
Sofie Tapper et al.
Objective: Essential tremor is a common movement disorder with an unclear origin. Emerging evidence suggests the role of the cerebellum and the thalamus in tremor pathophysiology. We examined the two main neurotransmitter...
Shunichi Satoh,Yasufumi Kondo,Shinji Ohara et al.
Shunichi Satoh et al.
Background: Spinocerebellar ataxia type 23 (SCA23) is an autosomal dominant cerebellar ataxia caused by pathogenic variants in the prodynorphin gene (PDYN). The frequency of PDYN variants is reportedly very low (~ 0.1%) i...
Case Reports
Cerebellum & ataxias. 2020 Jun 23:7:7. DOI:10.1186/s40673-020-00117-x 2020
A Maudoux,N Teissier,M Francois et al.
A Maudoux et al.
Background: Friedreich ataxia (FRDA) is the most frequent form of inherited ataxias. Vestibular and auditory assessments are not commonly part of the check up for these patients despite hearing and balance complaints. Scr...
Oculopalatal tremor following sequential medullary infarcts that did not cause hypertrophic olivary degeneration [0.03%]
序贯脑桥梗死未出现橄榄体萎缩的ocular-palatal震颤病例报告
Jorge C Kattah,Rodger J Elble,Jeffrey De Santo et al.
Jorge C Kattah et al.
Background: The syndrome of oculopalatal tremor is a known consequence of lesions in the dentate-olivary pathway. Hypertrophic degeneration of the inferior olive is a recognized pathological correlate of these lesions and...
Abnormal cerebellar volume in somatic vs. non-somatic delusional disorders [0.03%]
躯体性与非躯体性妄想障碍中的小脑体积异常
Joshua Krämer,Markus Huber,Christina Mundinger et al.
Joshua Krämer et al.
Background: There is abundant evidence for cerebellar involvement in schizophrenia, where the cerebellum has been suggested to contribute to cognitive, affective and motor dysfunction. More recently, specific cerebellar r...
Hypomagnesaemia induced recurrent cerebellar ataxia: an interesting case with successful management [0.03%]
低镁血症导致的复发性小脑共济失调：一例成功处理的有趣病例
Singh Saraj Kumar,Goel Khushbu,Mukherji Joy Dev
Singh Saraj Kumar
Purpose: Severe Hypomagnesaemia is a rare biochemical findings utilized for identifying the etiology of cerebellar ataxia. It requires a high degree of suspicion to diagnose. MRI findings are often nonspecific. ...
Case Reports
Cerebellum & ataxias. 2020 Jan 8:7:1. DOI:10.1186/s40673-019-0110-9 2020
One-year outcome of coenzyme Q10 supplementation in ADCK3 ataxia (ARCA2) [0.03%]
ADCK3共酶Q10补充治疗一年的疗效（ARCA2）
Tommaso Schirinzi,Martina Favetta,Alberto Romano et al.
Tommaso Schirinzi et al.
Background: The recessive ataxia ARCA2 is a rare disorder characterized by Coenzyme Q10 (CoQ10) deficiency due to biallelic mutations in ADCK3 gene. Despite the pathophysiological role, available data are not univocal on ...