A neurological examination score for the assessment of spinocerebellar ataxia 3 (SCA3)

Abstract

Spinocerebellar ataxias (SCAs) are characterized by a heterogeneous set of clinical manifestations. Our aims were to assess the neurological features of SCA3, and to describe and test the feasibility, reliability, and validity of a comprehensive Neurological Examination Score for Spinocerebellar Ataxia (NESSCA). The NESSCA was administered to molecularly diagnosed SCA3 patients at an outpatient neurogenetics clinic. The scale, based on the standardized neurological examination, consisted of 18 items that yielded a total score ranging from 0 to 40. The score's interrater reliability and internal consistency were investigated, and a principal components analysis and a correlation with external measures were performed. Ninety-nine individuals were evaluated. Interrater reliability ranged from 0.8 to 1 across individual items (P < 0.001); internal consistency, indicated by Cronbach's alpha, was 0.77. NESSCA scores were significantly correlated with measures of disease severity: disease stage (rho = 0.76, P < 0.001), duration (rho = 0.56, P < 0.001), and length of CAG repeat (rho = 0.30, P < 0.05). NESSCA was a reliable measure for the assessment of distinct neurological deficits in SCA3 patients. Global scores correlated with all external variables tested, showing NESSCA to be a comprehensive measure of disease severity that is both clinically useful and scientifically valid.

Occupational therapy in spinocerebellar ataxia type 3: an open-label trial

“…In any case, it is possible that patients with more social networks and consequently better quality of life were inadvertently selected. Keeping in mind that this sample was limited to independent ambulatory patients, we still believe that this group was representative of SCA3 patients with an A-C-A ancestry, since general parameters such as age, age at onset, gender, CAGn ranges, and NESSCA scores were similar to those found in previous studies on these populations (5,19).…”

“…Quality of life was investigated with the Portuguese version of the World Health Organization Quality of Life questionnaire (WHOQOL-BREF) (17,18). At baseline, the Neurological Examination Score for Spinocerebellar Ataxia (NESSCA) (19) and the Scale for Assessment and Rating of Ataxia (SARA) score (20) were performed by previously trained observers (JAMS and ACFS).…”

A Prospective Study of SCA3 Gait Ataxia Described through a Markovian Method

“…Data, such as gender, age at onset, MJD subtype and number of trinucleotide repeats (CAGn), were collected at the baseline. In each visit, including the baseline, a NESSCA score was taken [9] . From this total score, only the GA score was extracted for analysis and then classified as the GA score of the specific year of disease duration for a given patient.…”

“…MJD is a rare, highly disabling disease, affecting 3: 100,000 individuals in our population [8] . The progression rate of the hallmark neurological deficit in MJD, namely gait ataxia (GA), was assessed with a neurological evaluation instrument, called NESSCA (Neurological Examination Score for Spinocerebellar Ataxia) [9] .…”

MR Imaging in Spinocerebellar Ataxias: A Systematic Review

“…1,3 Sleep, cognitive, and psychiatric symptoms are also frequent in PolyQ-SCA, possibly due to a more widespread CNS degeneration. 4,5 Natural history studies with well-validated SCA scales, such as the Scale for the Assessment and Rating of Ataxia (SARA) 6 and the Neurologic Examination Score for Spinocerebellar Ataxia 7 were concordant with both the very slow disease progression [8][9][10] and the necessity for large sample sizes to test disease-modifying therapies in future randomized clinical trials. [8][9][10][11][12][13] Surrogate biomarkers could hasten randomized clinical trials and drug discoveries for SCA.…”