ArticleHuman genetics2018
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.
Article in Human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 28 citations in OpenAlex.
- Functional disease progression in children with inherited peripheral neuropathies: A prospective cohort study.Journal of neuromuscular diseases · 2026Article
- Peripheral Neuropathy-Predominant Adult-Onset Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: Novel Variant in the SACS gene.Annals of Indian Academy of Neurology · 2026Article
- Frameshift and Copy Number Variants inNeurology. Genetics · 2025Article
- Charlevoix-Saguenay spastic ataxia: a novel mutation in the SACS gene.Acta neurologica Belgica · 2025Article
- Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound.Journal of neurology · 2024Article
- Autosomal recessive cerebellar ataxias: a diagnostic classification approach according to ocular features.Frontiers in integrative neuroscience · 2023Article
- Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome.Orphanet journal of rare diseases · 2022Review
- The Intersection Between Cerebellar Ataxia and Neuropathy: a Proposed Classification and a Diagnostic Approach.Cerebellum (London, England) · 2022Review
- Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.International journal of molecular sciences · 2022Review
- A genetic correlation and bivariate genome-wide association study of grip strength and depression.PloS one · 2022Article
- Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias.Translational neurodegeneration · 2021Article
- A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders.Frontiers in neurology · 2020Review
- Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey.Neurogenetics · 2020Article
- Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.American journal of human genetics · 2019Article
- SACS Gene Deletional Mutation Presenting as an Isolated Nonprogressive Sensory Motor Axonal Neuropathy: A Case Report.Annals of Indian Academy of NeurologyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 11 institutions in 2 countries.
Funding
Abstract
Mutations in the SACS gene have been initially reported in a rare autosomal recessive cerebellar ataxia syndrome featuring prominent cerebellar atrophy, spasticity and peripheral neuropathy as well as retinal abnormalities in some cases (autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS). In the past few years, the phenotypic spectrum has broadened, mainly owing to the availability and application of high-throughput genetic testing methods. We identified nine patients (three sib pairs, three singleton cases) with isolated, non-syndromic hereditary motor and sensory neuropathy (HMSN) who carried pathogenic SACS mutations, either in the homozygous or compound heterozygous state. None of the patients displayed spasticity or pyramidal signs. Ataxia, which was noted in only three patients, was consistent with a sensory ataxia. Nerve conduction and nerve biopsy studies showed mixed demyelinating and axonal neuropathy. Brain MRI scans were either normal or revealed isolated upper vermis atrophy of the cerebellum. Our findings confirm the broad clinical spectrum associated with SACS mutations, including pure polyneuropathy without characteristic clinical and brain imaging manifestations of ARSACS.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.