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Clinical Rating Scales for Ataxia
Clinical rating scales for ataxia yield a semi-quantitative measure of disease severity. Rating is based on standardized scoring, usually applied on...
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A Comprehensive Transcriptome Analysis Identifies FXN and BDNF as Novel Targets of miRNAs in Friedreich’s Ataxia Patients
Friedreich’s ataxia (FRDA) is a genetic neurodegenerative disease that is caused by guanine-adenine-adenine (GAA) nucleotide repeat expansions in the...
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SPECT and PET
Both single photon emission computed tomography (SPECT) and positron emission tomography (PET) are tomographic imaging procedures using...
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Quantitative Gait and Balance Outcomes for Ataxia Trials: Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers
With disease-modifying drugs on the horizon for degenerative ataxias, ecologically valid, finely granulated, digital health measures are highly...
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CHARON: An Imaging-Based Diagnostic Algorithm to Navigate Through the Sea of Hereditary Degenerative Ataxias
The complexity in diagnosing hereditary degenerative ataxias lies not only in their rarity, but also in the variety of different genetic conditions...
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The Ubiquitin–Proteasome System and Cerebellar Developmental Disease
A variety of developmental diseases of the cerebellum are associated with the dysregulation of proteins regulated by the ubiquitin–proteasome system...
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Genetics and Differential Diagnosis of Cerebellar Ataxias
Ataxias are a complex and heterogeneous group of disorders characterized by the absence of order and coordination of voluntary movements and loss of...
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Editing the Genome
Cerebellar ataxias (CAs) represent a heterogeneous group of sporadic or inherited disorders, including the genetic group of nucleotide repeat...
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Diagnostic Yield of NGS Tests for Hereditary Ataxia: a Systematic Review
Next-generation sequencing (NGS), comprising targeted panels (TP), exome sequencing (ES), and genome sequencing (GS) became robust clinical tools for...
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An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches
The hereditary cerebellar ataxias (HCAs) are rare, progressive neurologic disorders caused by variants in many different genes. Inheritance may...
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Cerebello-Spinal tDCS as Rehabilitative Intervention in Neurodegenerative Ataxia
Cerebellar ataxias are a heterogenous group of degenerative disorders for which we currently lack effective and disease-modifying interventions. The...
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Ferroptosis: underlying mechanisms and involvement in neurodegenerative diseases
Ferroptosis, a mode of cell death that was recently identified in 2012, is driven by iron-dependent lipid peroxidation and distinct from other...
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Mitochondrial Disorders
Mitochondria, double-membrane organelles, are the major site of energy production and vital components of all eukaryotic cells because of the...
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Genetic Analysis of Hereditary Ataxias in Peru Identifies SCA10 Families with Incomplete Penetrance
Relative frequency of hereditary ataxias remains unknown in many regions of Latin America. We described the relative frequency in spinocerebellar...
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Spinocerebellar Ataxia Type 7: From Mechanistic Pathways to Therapeutic Opportunities
Spinocerebellar ataxiaSpinocerebellar ataxia (SCA) type 7 (SCA7) is a cerebellar and retinal neurodegenerative diseaseNeurodegenerative diseases...
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Ferroptosis and Neurodegenerative Diseases: Insights into the Regulatory Roles of SLC7A11
Programed cell death plays a key role in promoting human development and maintaining homeostasis. Ferroptosis is a recently identified pattern of...
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Novel Therapeutic Challenges in Cerebellar Diseases
In the last decade, substantial scientific progress has enabled a better understanding of the pathogenesis of cerebellar diseases and the improvement...
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Curcumin-Loaded Nanoparticles in Neurodegenerative Diseases
The miracle molecule, curcumin, is known for its antioxidant and anti-inflammatory effects. These advantageous properties are expedient in combating...
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Clinical phenoty** and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations
Hereditary spinocerebellar degenerations (SCDs) is an umbrella term that covers a group of monogenic conditions that share common pathogenic...
