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Background: Ataxia telangiectasia is one of the most common causes of autosomal recessive cerebellar ataxias. However, absence of telangiectasia, normal levels of alpha‐fetoprotein and negative genetic test may direct to alternative diagnosis with similar phenotypes such as ataxia telangiectasia‐like disorders (ATLD). Cases: We report two instructive cases of ATLD: the first case with ataxia telangiectasia‐like disorder type 1 related to MRE11A gene, and the second case with ataxia telangiectasia‐like disorder type 2 related to PCNA gene. Literature Review: ATLD is an unusual group of autosomal recessive diseases that share some clinical features and pathophysiological mechanisms with ataxia telangiectasia (AT). ATLD may be associated with mutations in the MRE11A (ATLD type 1) and PCNA (ATLD type 2) genes. ATLD belongs to the group of chromosomal instability syndromes. The reason for the term ATLD is related to the similar pathophysiological mechanisms observed in AT, which is characterized by chromosomal instability and radiosensitivity. Conclusions: In this review, the main clinical features, biomarkers, brain imaging and genetics of ATLD are discussed. Mutations in the MRE11A and PCNA genes should be included in the differential diagnosis for early onset cerebellar ataxia with absence of telangiectasia and normal levels of alpha‐fetoprotein. View Supplementary Video 1 [ABSTRACT FROM AUTHOR]

Background: Movement disorders are frequent features of prionopathies. However, their prevalence and onset remain poorly described. Methods: We performed a systematic review of case reports and case series of pathologically- and genetically confirmed prionopathies. Timing of symptom and movement disorder onset were documented. Continuous variables were compared between two groups using the Wilcoxon rank sum test and between multiple groups using Kruskal-Wallis test. Categorical variables were compared using Fisher's exact test. Results: A total of 324 cases were included in this analysis. Movement disorders were a common feature at the onset of symptoms in most prionopathies. Gait ataxia was present in more than half of cases in all types of prionopathies. The prevalence of limb ataxia (20%) and myoclonus (24%) was lower in Gerstmann- Sträussler-Scheinker disease compared to other prionopathies (p = 0.004). Myoclonus was common but often a later feature in sporadic Creutzfeldt-Jakob disease (2 months before death). Chorea was uncommon but disproportionately prevalent in variant Creutzfeldt-Jakob disease (30% of cases; p < 0.001). In genetic Creutzfeldt-Jakob disease, E200K PRNP carriers exhibited gait and limb ataxia more often when compared to other mutation carriers. Discussion: Movement disorders are differentially present in the course of the various prionopathies. The movement phenomenology and appearance are associated with the type of prion disease and the PRNP genotype and likely reflect the underlying pattern of neurodegeneration. Reliance on myoclonus as a diagnostic feature of sporadic Creutzfeldt-Jakob disease may delay its recognition given its relatively late appearance in the disease course. [ABSTRACT FROM AUTHOR]

Background: Arm levitation is an involuntary elevation of the upper limb, a manifestation of the alien-limb phenomenon. It has rarely been reported in Creutzfeldt-Jakob disease (CJD), less so as an initial manifestation Case Report: We report a 56-year-old right-handed man with rapidly progressive gait ataxia and involuntary elevation of the left upper limb. During the next few weeks, the patient developed cognitive impairment, apraxia, visual hallucinations, and myoclonus. He met diagnostic criteria for CJD. We evaluated additional published cases of early-appearance of alien-limb phenomenon in the context of CJD; there were 22 such cases and alien-limb phenomenon was the first and exclusive manifestation in only five of them. Discussion: Arm levitation may be a distinct presentation of CJD, appearing earlier than other clinical features. [ABSTRACT FROM AUTHOR]