ReviewAnnals of translational medicine2016
Precision medicine in spinocerebellar ataxias: treatment based on common mechanisms of disease.
Review in Annals of translational medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 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
20 citing papers in PubMed, 38 citations in OpenAlex.
- Long-Term Follow-Up before and during Riluzole Treatment in Six Patients from Two Families with Spinocerebellar Ataxia Type 7.Cerebellum (London, England) · 2024Article
- Potassium dynamics in sickle cell anemia: clinical implications and pathophysiological insights.Annals of medicine and surgery (2012) · 2024Review
- Polyglutamine (PolyQ) Diseases: Navigating the Landscape of Neurodegeneration.ACS chemical neuroscience · 2024Review
- Functional implications of paralog genes in polyglutamine spinocerebellar ataxias.Human genetics · 2023Review
- Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot.Human genetics · 2023Article
- Lipid Dyshomeostasis and Inherited Cerebellar Ataxia.Molecular neurobiology · 2022Review
- Current and emerging treatment modalities for spinocerebellar ataxias.Expert review of neurotherapeutics · 2022Review
- Spinocerebellar ataxia type 23 (SCA23): a review.Journal of neurology · 2021Review
- Polyglutamine Ataxias: Our Current Molecular Understanding and What the Future Holds for Antisense Therapies.Biomedicines · 2021Review
- Update on the Treatment of Ataxia: Medication and Emerging Therapies.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2020Review
- Body composition in Spinocerebellar ataxia type 3 and 10 patients: Comparative study with control group.Nutritional neuroscience · 2020Article
- Aberrant Cerebellar Circuitry in the Spinocerebellar Ataxias.Frontiers in neuroscience · 2020Review
- From Pathogenesis to Novel Therapeutics for Spinocerebellar Ataxia Type 3: Evading Potholes on the Way to Translation.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2019Review
- Recent advances in molecular therapies for neurological disease: triplet repeat disorders.Human molecular genetics · 2019Review
- Deep cerebellar stimulation reduces ataxic motor symptoms in the shaker rat.Annals of neurology · 2019Article
- Intravenously Administered Novel Liposomes, DCL64, Deliver Oligonucleotides to Cerebellar Purkinje Cells.Cerebellum (London, England) · 2019Article
- Paradigm for disease deconvolution in rare neurodegenerative disorders in Indian population: insights from studies in cerebellar ataxias.Journal of genetics · 2018Article
- Potassium channel dysfunction underlies Purkinje neuron spiking abnormalities in spinocerebellar ataxia type 2.Human molecular genetics · 2017Article
- Recent advances in modelling of cerebellar ataxia using induced pluripotent stem cells.Journal of neurology & neuromedicine · 2017Article
- Degenerative Ataxias: challenges in clinical research.Annals of clinical and translational neurology · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Spinocerebellar ataxias (SCAs) are a heterogeneous group of dominantly inherited neurodegenerative disorders affecting the cerebellum and its associated pathways. There are no available symptomatic or disease-modifying therapies available for any of the over 30 known causes of SCA. In order to develop precise treatments for SCAs, two strategies can be employed: (I) the use of gene-targeting strategies to silence disease-causing mutant protein expression; and (II) the identification and targeting of convergent mechanisms of disease across SCAs as a basis for treatment. Gene targeting strategies include RNA interference and antisense oligonucleotides designed to silence mutant genes in order to prevent mutant protein expression. These therapies can be precise, but delivery is difficult and many disease-causing mutations remain unknown. Emerging evidence suggests that several common disease mechanisms may exist across SCAs. Disrupted protein homeostasis, RNA toxicity, abnormal synaptic signaling, altered intracellular calcium handling, and altered Purkinje neuron membrane excitability are all disease mechanisms which are seen in multiple etiologies of SCA and could potentially be targeted for treatment. Clinical trials with drugs such as riluzole, a potassium channel activator, show promise for multiple SCAs and suggest that convergent disease mechanisms do exist and can be targeted. Precise treatment of SCAs may be best achieved through pharmacologic agents targeting specific disrupted pathways.
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.