Clinical phenomena of Charlevoix-Saguenay ataxia in two adult brothers
Bibliographic record
Abstract
Introduction Autosomal recessive ataxia of Charlevoix-Saguenay (ARSACS) is characterized by early onset cerebellar ataxia, lower limb spasticity, and sensorimotor axonal polyneuropathy. Early atrophy of the superior cerebellar vermis is always present. Molecular linkage analysis found that the ARSACS gene is located on chromosome 13q12. Cloning of the gene, SACS, demonstrated that it encodes the protein sacsin. Objectives Systematic evaluation of neurological, neuropsychiatric and neuropsychological features in two male siblings. Aims Investigation of the putative relationship between cerebellar dysfunction and affective symptoms. Methods Detailed neuropsychiatric and neuropsychological assessment. Results The first patient, aged 55, the disease started in early infancy and a severe progressive cerebellar syndrome with spasticity of the legs and axonal polyneuropathy developed. In his brother, aged 50, the debut of neurological symptoms was in preadolescence with a less severe deterioration over time. Cognitive functioning was only marginally impaired in the latter patient, whereas behavioural aberrations were present in the first patient only. Both patients showed a reduced cognitive and emotional responsivity to environmental events leading to impairments in several areas of daily life, such as lack of effort and strategic planning, as well as impulsivity and impoverished social interaction with emotional indifference. This symptom profile typically points towards the presence of an apathy syndrome. Conclusions In ARSACS, in addition to the motor impairments, it may be postulated that the cerebellar cognitive affective syndrome is present. Thus, this hereditary form of ataxia may be accompanied by a series of non-motor symptoms of which motivational and affective signs dominate. \
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".