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J Assoc Physicians India
March 2025
Head, Department of Neurology, Stanley Medical College, Chennai, Tamil Nadu, India.
Background: Diabetic striatopathy (DS), marked by hemichorea-hemiballismus syndrome (HCHB) linked to hyperglycemia, presents as a rare complication of diabetes mellitus.
Case Description: This paper details a case study involving a 60-year-old woman with poorly regulated diabetes, outlining the evolution, clinical signs, imaging characteristics, and therapeutic interventions for DS. The patient exhibited persistent involuntary movements in her left upper and lower limbs, exacerbated by voluntary actions but relieved during sleep.
Cerebellum
March 2025
Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Polyglutamine ataxias are autosomal dominantly inherited neurodegenerative disorders in which the molecular aetiology is an expanded CAG glutamine-encoding repeat in the causative genes. At present, there is no effective treatment, but there are several ongoing trials addressing polyglutamine disorders increasing the need of knowledge about prevalence and relative frequencies of the different subtypes. To identify all individuals with genetically confirmed polyglutamine ataxia in Denmark, determine frequency of subtypes and estimate the incidences.
View Article and Find Full Text PDFCell Genom
March 2025
Huntington's Disease Centre and Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology and UK Dementia Research Institute, UCL, London, UK. Electronic address:
Somatic CAG expansion drives neuronal loss in Huntington's disease (HD), but how expansion results in pathogenesis has remained unclear. Handsaker et al. use single-cell RNA and repeat length sequencing to reveal a phased model of expansion and toxicity, highlighting a critical tipping point beyond 150 CAG repeats where neuronal identity collapses and cells die.
View Article and Find Full Text PDFCerebellum
March 2025
Molecular Genetics Laboratory, Department of Psychiatry, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
Spinocerebellar ataxia type 12 (SCA12), an autosomal dominant cerebellar ataxia, caused by an expansion of (CAG) in the 5' of the PPP2R2B gene on chr5q32, is common in India. The illness often manifests late in life, with diverse neurological and psychiatric symptoms, suggesting involvement of different brain regions. Prominent neuronal loss and atrophy of the cerebellum have been noted earlier.
View Article and Find Full Text PDFEur J Neurosci
March 2025
INMED, Aix-Marseille University, INSERM U1249, Marseille, France.
Huntington's disease (HD) is a neurodegenerative disorder that presents motor, cognitive, and psychiatric symptoms as it progresses. Prior to motor symptoms onset, alterations, and dysfunctions in the corticostriatal projections have been described along with cognitive deficits, but the sequence of early alterations of brain circuits is largely unknown. There is thus a crucial need to identify early alterations that precede symptoms and that could be used as potential early disease markers.
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