We present a Belgian family with severe XLMR and a progressive neurological disorder with ataxia, spasticity and convulsions. Biochemical investigations, neuroimaging and neuropathology were normal. Linkage analysis pointed to region Xq27–28 as the probable locus for the genetic defect. The sequence ...
2.Any of various degenerative, often hereditary, disorders that are characterized by ataxia and are frequently associated with cerebellar atrophy. [Greekataxiā,disorder:a-,not; seea-1+taxis,order.] a·tax′icadj.& n. American Heritage® Dictionary of the English Language, Fifth Edition. Copyri...
The clinical demarcation of the syndrome progressive myoclonus ataxia is unclear, leading to a lack of recognition and difficult differentiation from other neurological syndromes.The objective of this study was to apply a refined definition of progressive myoclonus ataxia and describe the clinical character...
What are some neurological disorders in dogs? What is a degenerative disease of the basal ganglia? What are the types of neurodegenerative disease? What is chronic thromboembolic disease? What is a brain disease? What is CADASIL brain disease? What does ataxia telangiectasia do to the body? What...
Ataxia in children: early recognition and clinical evaluation Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance. It is ma... P Pavone,AD Praticò,V Pavone,... - 《Italian Journal of Pediatrics》 被...
Genetically, the heterogeneity within this group of disorders is shown by the occurrence of autosomal recessive and dominant forms with incomplete penetrance. In this paper we report on a sibship with at least four affected males suffering from progressive myoclonus epilepsy, ataxia, and mental ...
The early neurological examination findings in children with Dravet syndrome are usually normal; however, in the original description, Dravet1 noted pyramidal tract signs and ataxia. To our knowledge, the nature and course of changes in gait by age have not been studied. We aimed to characterize...
Trinucleotide repeat expansion is the genetic basis for a sizeable group of inherited neurological and neuromuscular disorders. Friedreich ataxia (FRDA) is a relentlessly progressive neurodegenerative disorder caused by GAA·TTC repeat expansion in the first intron of theFXNgene. The expanded repeat reduce...
Additionally, their patient had bilateral sensorineural deafness, cerebellar ataxia, and extensor plantar responses, like our subject. Computed tomography revealed widespread atrophy in that case too, and at autopsy diffuse neuronal loss and gliosis throughout the brain were confirmed. While mitochondrial...
In secondary dystonias, there are often atypical features and additional neurological signs, such as prominent tongue and perioral involvement, pyramidal signs, ataxia, oculomotor abnormalities, or cognitive disturbances. Acquired brain lesions typically affect the putamen, thalamus, or globus pallidus and...