On the Cut-Off Value of the Anteroposterior Diameter of the Midbrain Atrophy in Spinocerebellar Ataxia Type 2 Patients.

(1) Background: Spinocerebellar ataxias (SCA) is a term that refers to a group of hereditary ataxias, which are neurological diseases characterized by degeneration of the cells that constitute the cerebellum. Studies suggest that magnetic resonance imaging (MRI) supports diagnoses of ataxias, and linear measurements of the aneteroposterior diameter of the midbrain (ADM) have been investigated using MRI. These measurements correspond to studies in spinocerebellar ataxia type 2 (SCA2) patients and in healthy subjects.

Peripheral Inflammation Links with the Severity of Clinical Phenotype in Spinocerebellar Ataxia 2.

Background: The role of peripheral inflammation in spinocerebellar ataxia type 2 (SCA2) is unknown.

Objective: The objective of this study was to identify peripheral inflammation biomarkers and their relationship with the clinical and molecular features.

Methods: Blood cell count-derived inflammatory indices were measured in 39 SCA2 subjects and their matched controls.

Gene Therapy for Polyglutamine Spinocerebellar Ataxias: Advances, Challenges, and Perspectives.

Polyglutamine spinocerebellar ataxias (SCAs) comprise a heterogeneous group of six autosomal dominant ataxias caused by cytosine-adenine-guanine repeat expansions in the coding region of single genes. Currently, there is no curative or disease-slowing treatment for these disorders, but their monogenic inheritance has informed rationales for development of gene therapy strategies. In fact, RNA interference strategies have shown promising findings in cellular and/or animal models of SCA1, SCA3, SCA6, and SCA7.

Cognitive Decline Is Closely Associated with Ataxia Severity in Spinocerebellar Ataxia Type 2: a Validation Study of the Schmahmann Syndrome Scale.

The cerebellar cognitive affective syndrome scale (CCAS-S) was designed to detect specific cognitive dysfunctions in cerebellar patients but is scarcely validated in spinocerebellar ataxias (SCA). The objective of this study is to determine the usefulness of the CCAS-S in a Cuban cohort of SCA2 patients and the relationship of its scores with disease severity. The original scale underwent a forward and backward translation into Spanish language, followed by a pilot study to evaluate its comprehensibility.

Involvement of the Auditory Pathway in Spinocerebellar Ataxia Type 7.

Background: Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant disorder caused by a mutation in the ATXN7 gene. The involvement of the brainstem auditory pathway in pathogenesis of this disease has not been systematically assessed.

Aim: To determine involvement of the brainstem auditory pathway in SCA7 patients and its relationship to clinical features of the disease.