Deleterious variants of SDHA are most frequently associated with Leigh and Leigh-like syndromes.#Here, we describe a case of a 9-year-old boy with tremor, nystagmus, hypotonia, developmental delay, significant ataxia, and progressive cerebellar atrophy. He was found to have biallelic variants in...
Objective: To report two patients with sporadic, adult-onset ataxia with a rapidly progressive disease course and extra-cerebellar symptoms resembling prion disease.Background: Sporadic, adult-onset cerebellar ataxia is a disease with multiple etiologies. Cortical cerebellar atrophy (CCA), idiopathic ...
Objective: We wanted to ascertain the reported prevalence of NMS in different types of progressive cerebellar ataxia in adults.Background: Cerebellar ataxias comprise a large group of heterogeneous disorders with both motor and non-motor symptoms (NMS).Design/Methods: Systematic review of studies of...
Another type of MS is primary progressive disease where symptoms get worse from the outset. Simple Eye Scan Can Reveal Extent of Multiple Sclerosis Cystic Fibrosis is a progressive disease with the average age of death for a person with CF of around 29 years old. Cystic Fibrosis sufferers livi...
Erdheim-Chester disease, a rare histiocytic disorder characterised by lipid laden cells infiltrating long bones, who presented with ataxia and diabetes insipidus.1 They thought that this was the first reported case of Erdheim-Chester disease showing cerebellar symptoms and deep cerebellar lesions on MRI...
Results: The mean age at onset was 53.1 years, with the most frequent symptoms of truncal ataxia (100% of patients), ataxic dysarthria (100%), limb ataxia (93%), and hyperreflexia (79%). Tongue fasciculation and subsequent ... K Abe - 《Neurology》 被引量: 0发表: 2017年 ...
GlyR is predominantly located in the caudal aspect of the brain stem, cerebellum, and spinal cord, potentially leading to brainstem symptoms, such as eye movement disorders or cerebellar symptoms like gait ataxia and poor coordination. Anti-GlyR antibody is associated with Stiff person syndrome ...
GlyR is predominantly located in the caudal aspect of the brain stem, cerebellum, and spinal cord, potentially leading to brainstem symptoms, such as eye movement disorders or cerebellar symptoms like gait ataxia and poor coordination. Anti-GlyR antibody is associated with Stiff person syndrome ...
intellectual impairment may be unexpectedly severe. Other focal signs include hemianopia and progressive cerebellarataxia. Visual blurring or distortion is also common at the onset (Walker, 1985). With progression of the disease, evidence of multiple lesions may become obvious and the final state is...
Axial muscle weakness leading to camptocormia is an atypical presentation of mitochondrial DNA disease and does not manifest in isolation, usually being associated with other symptoms such as deafness, encephalopathy and ataxia (Sakiyama et al., 2011). Patients with mitochondrial thymidine kina...