ATAXIA

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Autoantibodies related to ataxia and other central nervous system manifestations of gluten enteropathy
《World Journal of Clinical Cases》2024年第12期2031-2039,共9页Tsvetelina Velikova Georgi Vasilev Russka Shumnalieva Lyubomir Chervenkov Dimitrina Georgieva Miteva Milena Gulinac Stamatios Priftis Snezhina Lazova 
Supported by The European Union-NextGenerationEU,Through The National Recov-ery and Resilience Plan of the Republic of Bulgaria,No.BG-RRP-2.004-0008。
Gluten ataxia and other central nervous system disorders could be linked to gluten enteropathy and related autoantibodies.In this narrative review,we focus on the various neuro-logical manifestations in patients with ...
关键词：Gluten ataxia Celiac disease Gluten enteropathy AUTOANTIBODIES Anti-gliadin antibodies Anti-bodies to tissue transglutaminase Anti-tissue transglutaminase antibodies Anti-transglutaminase 6 antibodies Anti-glycine receptor antibodies Anti-glutamine acid decarboxylase antibodies 
Rare adult neuronal ceroid lipofuscinosis associated with CLN6 gene mutations:A case report
《World Journal of Clinical Cases》2023年第15期3533-3541,共9页Xue-Qiang Wang Chuan-Bi Chen Wen-Jie Zhao Guang-Bin Fu Yu Zhai 
BACKGROUND Adult neuronal ceroid lipofuscinosis(ANCL)can be caused by compound heterozygous recessive mutations in CLN6.The main clinical features of the disease are neurodegeneration,progressive motor dysfunction,sei...
关键词：CLN6 Neuronal ceroid lipofuscinosis Genetic testing EPILEPSY ATAXIA Case report 
Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation:A case report
《World Journal of Clinical Cases》2022年第29期10681-10688,共8页Yue-Yue Chang Chuan-Qing Yu Lei Zhu 
Supported by the Key project of Education Department of Anhui Province,No. KJ2019A0096;Huainan science and technology planning project,No. 2016A26(3);Project Research Fund of Anhui University of Science and Technology,No. fsyyyb2020-03。
BACKGROUND Cerebrotendinous xanthomatosis is an autosomal recessive disorder of lipid metabolism caused by the mutation of the CYP27A1 gene encoding sterol 27-hydroxylase,an essential enzyme for the conversion of chol...
关键词：Cerebrotendinous xanthomatosis CYP27A1 gene ATAXIA Juvenile cataracts Tendon xanthoma Lipid metabolism Case report 
Clinical and genetic study of ataxia with vitamin E deficiency: A case report被引量：2
《World Journal of Clinical Cases》2022年第23期8271-8276,共6页Lin-Wei Zhang Bing Liu Dan-Tao Peng 
BACKGROUND Ataxia with vitamin E deficiency(AVED)is a type of autosomal recessive cerebellar ataxia.Clinical manifestations include progressive cerebellar ataxia and movement disorders.TTPA gene mutations cause the di...
关键词：Ataxia with vitamin E deficiency TTPA gene TREMOR Case report 
Botulinum toxin injection for Cockayne syndrome with muscle spasticity over bilateral lower limbs:A case report
《World Journal of Clinical Cases》2021年第18期4728-4733,共6页Lin-Chieh Hsu Po-Ying Chiang Wei-Pin Lin Yao-Hong Guo Pei-Chun Hsieh Ta-Shen Kuan Wei-Chih Lien Yu-Ching Lin 
BACKGROUND Cockayne syndrome(CS)is a rare inherited disease characterized by progressive motor symptoms including muscle weakness,joint contracture,ataxia,and spasticity.Botulinum neurotoxin type A has been used for c...
关键词：Cockayne syndrome Botulinum toxin SPASTICITY PAIN ATAXIA Case report 
Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature被引量：4
《World Journal of Clinical Cases》2021年第3期623-631,共9页Lan-Xiao Cao Ying Liu Zhao-Jun Song Bao-Rong Zhang Wen-Ying Long Guo-Hua Zhao 
the Research Foundation of Zhejiang Health,No.2020RC061。
BACKGROUND Type 1 sialidosis,also known as cherry-red spot-myoclonus syndrome,is a rare autosomal recessive lysosomal storage disorder presenting in the second decade of life.The most common symptoms are myoclonus,ata...
关键词：Sialidosis MYOCLONUS ATAXIA Neuraminidase 1 Case report Mucolipidoses 
Novel frameshift mutation in the SACS gene causing spastic ataxia of charlevoix-saguenay in a consanguineous family from the Arabian Peninsula:A case report and review of literature被引量：3
《World Journal of Clinical Cases》2020年第8期1477-1488,共12页Abdullah Al-Ajmi Sarah Shamsah Aleksandar Janicijevic Michayla Williams Fahd Al-Mulla 
BACKGROUND Familial cases of autosomal recessive spastic ataxia of charlevoix-saguenay have not been reported in the Arabian Peninsula,although the consanguineous marriage rate is very high.We report the first family ...
关键词：ATAXIA Autosomal RECESSIVE SPASTIC ATAXIA of charlevoix-saguenay Sacsin SACS mutation ARABIA Next generation sequencing Case report 
Gerstmann-Str?ussler-Scheinker disease: A case report被引量：3
《World Journal of Clinical Cases》2019年第3期389-395,共7页Ming-Ming Zhao Liang-Shu Feng Shuai Hou Ping-Ping Shen Li Cui Jia-Chun Feng 
Supported by Hungarian-Chinese Scientific Foundation,No.HCSCF-2016-4
BACKGROUND Gerstmann-Str?ussler-Scheinker(GSS) disease is an inherited prion disease that is clinically characterized by the early onset of progressive cerebellar ataxia. The incidence of GSS is extremely low and it i...
关键词：PRION DISEASE CEREBELLAR ATAXIA Magnetic RESONANCE imaging Diagnosis Brain Case report 
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