Genetic Neurodegenerative Diseases

Identification of Blood Based biomarker for Huntington's disease using in-silico gene expression analysis

This study identifies differentially expressed genes and hub genes in Huntington's disease using gene expression analysis and network analysis, but finds no consistent biomarker across datasets.

The timing and impact of psychiatric, cognitive and motor abnormalities in Huntington's disease

This study examines the prevalence, timing, and functional impact of psychiatric, cognitive, and motor symptoms in Huntington's disease gene carriers using clinical data from a large cohort.

Sacsin cotranslational degradation causes autosomal recessive spastic ataxia of Charlevoix-Saguenay

This study identifies cotranslational degradation of mutant sacsin as the cause of ARSACS, explaining the lack of genotype-phenotype correlation and suggesting sacsin levels should be included in diagnostic algorithms.

Four Salvage NAD+ Biosynthetic Pathway Enzymes Moonlight as Molecular Chaperones to Protect Against Proteotoxicity

The paper identifies four NAD+ biosynthetic enzymes that function as molecular chaperones to protect against proteotoxicity in neurodegenerative diseases.

Distinct sub-cellular autophagy impairments occur independently of protein aggregation in induced neurons from patients with Huntington's disease

This study shows that induced neurons from Huntington's disease patients have impaired autophagy in neurites, independent of protein aggregation, and that HTT is critical for neuronal autophagy.

Molecular and electrophysiological features of spinocerebellar ataxia type seven in induced pluripotent stem cells

This study generates iPSCs from SCA7 patients and shows molecular and electrophysiological abnormalities in derived neurons and photoreceptors.

High Throughput Screening for Expanded CTG repeats in Myotonic Dystrophy Type 1 Using Melt Curve Analysis

The paper develops a high throughput, low-cost method for detecting CTG repeat expansions in DM1 using TP-PCR and melt curve analysis, showing accurate identification of alleles in newborn blood spots.

Somatic CAG expansion in Huntington's disease is dependent on the MLH3 endonuclease domain, which can be excluded via MLH3 splice redirection to suppress expansion

This study shows that targeting the MLH3 endonuclease domain reduces somatic CAG expansion in Huntington's disease models and patient cells.

Timing of selective basal ganglia white matter loss in Huntington's disease

The paper investigates WM loss in premanifest HD, finding early reductions in specific tracts 11 years before onset and correlations with motor scores.

Cholecystokinin 1 Receptor (Cck1R) Normalizes mTORC1 signaling and is Protective to Purkinje cells in SCA Mice

The paper shows that activating the Cck1R pathway reduces mTORC1 signaling and protects Purkinje neurons in SCA mouse models.

Deletion of Small Ubiquitin-like Modifier-1 Attenuates Behavioral and Anatomical Deficits by Enhancing Functional Autophagic Activities in Huntington Disease

This study shows that deleting SUMO1 in HD mice reduces motor and neurological impairments by enhancing autophagy and reducing mHTT levels.

Atxn2-CAG100-KnockIn mouse spinal cord shows progressive TDP43 pathology associated with cholesterol biosynthesis suppression

This study examines an SCA2 mouse model to identify molecular mechanisms of spinal cord pathology, finding progressive TDP43 aggregation and cholesterol biosynthesis suppression.

Ribosome Profiling Reveals a Dichotomy Between Ribosome Occupancy of Nuclear-Encoded and Mitochondrial-Encoded OXPHOS mRNA Transcripts in a Striatal Cell Model of Huntington Disease

The paper uses ribosome profiling to show that mitochondrial-encoded OXPHOS mRNA translation is increased while nuclear-encoded OXPHOS mRNA translation is decreased in Huntington disease striatal cells.

Fibroblast growth factor 9 stimulates neurite outgrowth through NF-kB signaling in striatal cell Huntington's disease models

This study shows that FGF9 promotes neurite outgrowth in HD models by activating NF-kB signaling, which upregulates structural and synaptic proteins.

Dysregulation of the basal ganglia indirect pathway prior to cell loss in the Q175 mouse model of Huntington's disease

This study identifies early dysregulation in the basal ganglia indirect pathway in Q175 HD mice before cell loss, showing hypoactivity in striatal neurons and hyperactivity in GPe neurons.

Transcriptome Alterations in Myotonic Dystrophy Frontal Cortex

The paper analyzes RNA-seq transcriptomes from frontal cortex tissue of DM1 and DM2 patients to identify splicing changes and their implications for CNS dysfunction.

Distribution of Huntington's disease Haplogroups in Indian population

The paper examines haplogroups at the HTT locus in an Indian population, finding significant genotype frequency differences between HD cases and controls, with Haplogroup A being predominant.

SREBP2 delivery to striatal astrocytes normalizes transcription of cholesterol biosynthesis genes and ameliorates pathological features in Huntington's disease

This study shows that delivering SREBP2 to astrocytes in HD mice restores cholesterol biosynthesis and improves disease symptoms.

Dynamics of cortical degeneration over a decade in Huntington's Disease

This study uses longitudinal MRI data from Huntington's Disease patients to show complex regional variations in cortical atrophy over time, with some areas showing accelerated atrophy after diagnosis.

HTT silencing delays onset and slows progression of Huntington disease like phenotype: Monitoring with a novel neurovascular biomarker

This study shows that HTT silencing in premanifest HD mice delays disease onset and slows progression, using CBVa as a noninvasive biomarker.

A chlorzoxazone-baclofen combination improves cerebellar impairment in spinocerebellar ataxia type 1

The paper identifies optimal chlorzoxazone-baclofen concentrations to improve cerebellar dysfunction in SCA1 without toxicity, proposing a dose escalation trial design.

RAN translation of the expanded CAG repeats in the SCA3 disease context

This study investigates RAN translation of expanded CAG repeats in SCA3, showing that polyQ and polyA RAN proteins contribute to nuclear damage and apoptosis.

Modulating glial genes involved in synaptic function mitigates pathogenesis and behavioral deficits in a Drosophila model of Huntington's Disease

The paper shows that reducing glial genes involved in synaptic function reduces disease pathology and behavioral issues in a Drosophila Huntington's Disease model.

MSH2 knock-down shows CTG repeat stability and concomitant upstream demethylation at the DMPK locus in myotonic dystrophy type 1 human embryonic stem cells

This study shows that MSH2 knock-down stabilizes CTG repeats and reduces upstream CpG methylation in DM1 hESCs, suggesting a link between DNA repair and epigenetic changes in DM1.

In vivo progressive degeneration of Huntington's disease patient-derived neurons reveals human-specific pathological phenotypes

This study transplants HD patient-derived neurons into mice to observe in vivo degeneration and identifies mechanisms of disease propagation.

Selective inhibition of histone deacetylase 1 and 3 improves motor phenotype and alleviates transcriptional dysregulation in Huntington's disease mice

This study shows that inhibiting HDAC1 and HDAC3 with RGFP109 improves motor function and corrects gene expression in a Huntington's disease mouse model.

Inhibition of the SUV4-20 H1 histone methyltransferase increases frataxin expression in Friedreich's ataxia patient cells

This study shows that inhibiting SUV4-20 H1 increases frataxin expression in FRDA cells and patient-derived cells, suggesting it as a therapeutic target.

M2 Cortex-Dorsolateral striatum stimulation reverses motor symptoms and synaptic deficits in Huntington's Disease

This study shows that optogenetic stimulation of fronto-striatal pathways in HD mice improves motor symptoms and synaptic plasticity.

Altered Capicua expression drives regional Purkinje neuron vulnerability through ion channel gene dysregulation in Spinocerebellar ataxia type 1

The interaction of aging and oxidative stress contributes to pathogenesis in mouse and human Huntington disease neurons

This study investigates how aging and oxidative stress interact in Huntington disease neurons from mice and humans, finding that aging accelerates mutant HTT accumulation and increases oxidative stress sensitivity.