The authors report a clinical review of 16 childhood cases with early-onset cerebellar ataxia with retained tendon reflexes. The preservation of tendon reflexes distinguishes this disorder from Friedreich's ataxia. The mean age of onset of symptoms was 7.1 years. The main presenting symptom was ...
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;
Age is the most prominent biological risk factor [3], and the age of 65 years is often used to classify AD patients in early-onset (EOAD) and late-onset (LOAD) groups. Of all AD patients, around 10% are diagnosed with EOAD [4], and they present with their first symptoms between ...
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 ...
WFS is primarily identified by the early onset of DM and OA, typically before the age of 16. The study revealed also that 64% of individuals manifested SHL by age 20. Additionally, it was found that 60% displayed at least one of several clinical symptoms: cerebellar ataxia, peripheral ...
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 ...
Cognitive and antisaccadic deficits were higher as carriers were closer to the estimated onset of ataxia, whereas higher Scale for the Assessment and Rating of Ataxia (SARA) scores were associated most notably to vermis atrophy. The recognition of early features of SCA2 offers novel insights into...
Such strokes are typically embolic28 and present with thunderclap onset vertigo (often severe) with nausea, vomiting, and imbalance on walking, and half the cases have oc- cipital headache. The examination in such cerebellar strokes may show a direction- changing nystagmus on gaze testing and/or...
onset [57], a finding that is strikingly consistent with the results from DIAN [51]. If these biomarker dynamics are conserved in non-mendelian EOAD, one would expect to see elevated p-tau217 in plasma as early as age 40 in an individual who will go on to develop AD symptoms at age...
Early-onset Alzheimer’s disease (EOAD) is a rare but particularly devastating form of AD. Though notable for its high degree of clinical heterogeneity, EOAD is defined by the same neuropathological hallmarks underlying the more common, late-onset form o