Hereditary cerebellar ataxias with polyneuropathy

The paper gives a brief clinical characterization of hereditary cerebellar ataxias running with polyneuropathy. Particular attention is paid to the pathogenesis, clinical presentation, and treatment of gluten ataxia. A mutant gene and concurrent symptoms are indicated. The differential diagnosis of cerebellar ataxias should be started by ruling out the hereditary nature of the disease, which is verified by molecular genetic testing. In recent years, some genetic diseases manifesting themselves by a concurrence of ataxia and polyneuropathy have been replenished by a description of new hereditary syndromes. The knowledge of the nature of inheritance, age at disease onset, and concurrent manifestations will assist a practitioner in presuming the diagnosis of a rare disease and in referring a patient for medical genetic testing. Only a precise diagnosis will be able to assess prognosis and to use specific treatment

Early retinal degeneration in Huntington's disease based on optical coherence tomography: A case-control study

Background: The purpose of this study was to analyze optical coherence tomography (OCT) parameters of the choroid and retina in subjects with pre-manifest and manifest Huntington's disease (HD). Methods: In this case-control study, the retinal parameters of patients with genetically confirmed HD and healthy controls were evaluated using spectral-domain optical coherence tomography (SD-OCT). Genetic and neurological assessments were performed besides a thorough ophthalmological examination. Contrast Sensitivity (CS) logarithm was evaluated using the Freiburg Vision Test. The association between OCT parameters and clinical and genetic characteristics was studied. Results: A total of 91 subjects, including 60 HD subjects (60 eyes) and 31 control subjects (31 eyes) were eligible according to the inclusion and exclusion criteria. The range of the CAG (cytosine-adenine-guanine) repeat expansion size was 38–56 repeats, the mean ± standard deviation (SD) of the Unified HD Rating Scale (UHDRS) motor scores was 36.3±29.7, and disease duration was 13.7±7.2 years in HD subjects. Compared to the control group, significant decreases in the mean ganglion cell complex thickness and mean, temporal, superior, inferior, and nasal retinal nerve fiber layer (RNFL) thickness in HD subjects was revealed in OCT examination (P-values < 0.001, < 0.001, < 0.001, 0.023, 0.007 and 0.014, respectively). An inverse correlation between the disease duration and the mean RNFL thickness (r =- 0.470, P = 0.002) was found. Conclusions: Localization of retinal thickness loss shows a specific pattern of retinal neurodegeneration in HD, similar to Parkinson’s disease and mitochondrial diseases. The association with the disease duration confirms the progressive nature of these changes

European Academy of Neurology guidance for developing and reporting clinical practice guidelines on rare neurological diseases

© 2022 European Academy of NeurologyBackground and purpose: Rare diseases affect up to 29 million people in the European Union, and almost 50% of them affect the nervous system or muscles. Delays in diagnosis and treatment onset and insufficient treatment choices are common. Clinical practice guidelines (CPGs) may improve the diagnosis and treatment of patients and optimize care pathways, delivering the best scientific evidence to all clinicians treating these patients. Recommendations are set for developing and reporting high-quality CPGs on rare neurological diseases (RNDs) within the European Academy of Neurology (EAN), through a consensus procedure. Methods: A group of 27 experts generated an initial list of items that were evaluated through a two-step Delphi consensus procedure and a face-to-face meeting. The final list of items was reviewed by an external review group of 58 members. Results: The consensus procedure yielded 63 final items. Items are listed according to the domains of the AGREE instruments and concern scope and purpose, stakeholder involvement, rigour of development, and applicability. Additional items consider reporting and ethical issues. Recommendations are supported by practical examples derived from published guidelines and are presented in two tables: (1) items specific to RND CPGs, and general guideline items of special importance for RNDs, or often neglected; (2) items for guideline development within the EAN. Conclusions: This guidance aims to provide solutions to the issues specific to RNDs. This consensus document, produced by many experts in various fields, is considered to serve as a starting point for further harmonization and for increasing the quality of CPGs in the field of RNDs.info:eu-repo/semantics/publishedVersio

Clinical and genetic characteristics of late-onset Huntington's disease

Background: The frequency of late-onset Huntington's disease (>59 years) is assumed to be low and the clinical course milder. However, previous literature on late-onset disease is scarce and inconclusive. Objective: Our aim is to study clinical characteristics of late-onset compared to common-onset HD patients in a large cohort of HD patients from the Registry database. Methods: Participants with late- and common-onset (30–50 years)were compared for first clinical symptoms, disease progression, CAG repeat size and family history. Participants with a missing CAG repeat size, a repeat size of ≤35 or a UHDRS motor score of ≤5 were excluded. Results: Of 6007 eligible participants, 687 had late-onset (11.4%) and 3216 (53.5%) common-onset HD. Late-onset (n = 577) had significantly more gait and balance problems as first symptom compared to common-onset (n = 2408) (P <.001). Overall motor and cognitive performance (P <.001) were worse, however only disease motor progression was slower (coefficient, −0.58; SE 0.16; P <.001) compared to the common-onset group. Repeat size was significantly lower in the late-onset (n = 40.8; SD 1.6) compared to common-onset (n = 44.4; SD 2.8) (P <.001). Fewer late-onset patients (n = 451) had a positive family history compared to common-onset (n = 2940) (P <.001). Conclusions: Late-onset patients present more frequently with gait and balance problems as first symptom, and disease progression is not milder compared to common-onset HD patients apart from motor progression. The family history is likely to be negative, which might make diagnosing HD more difficult in this population. However, the balance and gait problems might be helpful in diagnosing HD in elderly patients