必应词典为您提供Early-onset-cerebellar-ataxia的释义,网络释义: 早发型小脑共济失调;晚期发病的小脑性共济失调;
ataxiaEOCAEarly onset cerebellar ataxia with retained tendon reflexes (EOCA) is a clinical syndrome characterised by progressive cerebellar ataxia with an onset before the age of 25 years and a wide spectrum of associated features. It is distinguished from Friedreich's ataxia (FA) mainly by the ...
Cerebellar ataxia is a rare event but is present for specific PSEN1 mutations, like in the case of the p.S170F mutation co-segregating with a Cathepsin D variant, suggesting a deleterious epistatic effect on the disease course [62]. Taken together, this indicates that it is reasonable to ...
Early-Onset Benign Childhood Occipital Seizure Early-Onset Bipolar Disorder Early-Onset Cerebellar Ataxia with Hypoalbuminemia Early-Onset Familial Alzheimer's Disease Early-Onset Glaucoma Early-Onset Group B Streptococcal Early-Onset Group B Streptococcal Disease ...
Identification of the first de novo mutation in potassium voltage-gated channel, shal-related subfamily, member 3 (KCND3) in a patient with complex early onset cerebellar ataxia in order to expand the genetic and phenotypic spectrum. Methods Whole exome sequencing in a cerebellar ataxia patient an...
Early-Onset Bipolar Disorder Early-Onset Cerebellar Ataxia with Hypoalbuminemia Early-Onset Familial Alzheimer's Disease Early-Onset Glaucoma Early-Onset Group B Streptococcal Early-Onset Group B Streptococcal Disease Early-Onset Myasthenia Gravis early-onset myopathy with fatal cardiomyopathy Early-Onset Pa...
exonic deletions of fxn and early-onset friedreich ataxia friedreich ataxia (fa) is the most frequent type of autosomal recessive cerebellar ataxia. first signs usually occur at a mean age of 16 years old (mostly ... - 《Jama Neurology》 被引量: 0发表: 2012年 Early-onset seizures due to...
Ataxia with ocular motor apraxia type 1 (AOA1) is another autosomal recessive cerebellar ataxia which is associated with oculomotor apraxia, hypoalbuminaemia, and hypercholesterolemia. Here we describe two siblings (13- and 10-year-old) display overlapping clinical features of both early-onset FRDA ...
The neurological examination of the five affected family members further supports previous data regarding the clinical presentation of most SCA28 patients: an early-onset cerebellar ataxia with a slowly progressive phenotype. Notably, all AFG3L2 mutations known so far are located in a small interval ...
Intriguingly, the genotype/phenotype relationship of the m.9185 T > C variant has become more complicated with the description of families with a high proportion of this variant but less severe phenotypes, including Charcot-Marie-Tooth disease (CMT), cerebellar ataxia, and episodic weakness ...