Polyglutamine diseases

EL Bunting, J Hamilton, SJ Tabrizi - Current Opinion in Neurobiology, 2022 - Elsevier
Polyglutamine diseases are a collection of nine CAG trinucleotide expansion disorders,
presenting with a spectrum of neurological and clinical phenotypes. Recent human, mouse …

Aberrant cerebellar circuitry in the spinocerebellar ataxias

KJ Robinson, M Watchon, AS Laird - Frontiers in neuroscience, 2020 - frontiersin.org
The spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative
diseases that share convergent disease features. A common symptom of these diseases is …

Early molecular layer interneuron hyperactivity triggers Purkinje neuron degeneration in SCA1

F Pilotto, C Douthwaite, R Diab, XQ Ye, C Tietje… - Neuron, 2023 - cell.com
Toxic proteinaceous deposits and alterations in excitability and activity levels characterize
vulnerable neuronal populations in neurodegenerative diseases. Using in vivo two-photon …

Differential spatiotemporal development of Purkinje cell populations and cerebellum-dependent sensorimotor behaviors

GC Beekhof, C Osório, JJ White, S van Zoomeren… - Elife, 2021 - elifesciences.org
Distinct populations of Purkinje cells (PCs) with unique molecular and connectivity features
are at the core of the modular organization of the cerebellum. Previously, we showed that …

Targeting ion channels and Purkinje neuron intrinsic membrane excitability as a therapeutic strategy for cerebellar ataxia

H Huang, VG Shakkottai - Life, 2023 - mdpi.com
In degenerative neurological disorders such as Parkinson's disease, a convergence of
widely varying insults results in a loss of dopaminergic neurons and, thus, the motor …

A Chlorzoxazone‐Baclofen Combination Improves Cerebellar Impairment in Spinocerebellar Ataxia Type 1

DD Bushart, H Huang, LJ Man, LM Morrison… - Movement …, 2021 - Wiley Online Library
Background A combination of central muscle relaxants, chlorzoxazone and baclofen
(chlorzoxazone‐baclofen), has been proposed for treatment of cerebellar symptoms in …

Pre-ataxic loss of intrinsic plasticity and motor learning in a mouse model of SCA1

C Osório, JJ White, H Lu, GC Beekhof, FR Fiocchi… - Brain, 2023 - academic.oup.com
Spinocerebellar ataxias are neurodegenerative diseases, the hallmark symptom of which is
the development of ataxia due to cerebellar dysfunction. Purkinje cells, the principal neurons …

Region‐specific preservation of Purkinje cell morphology and motor behavior in the ATXN1 [82Q] mouse model of spinocerebellar ataxia 1

JJ White, LWJ Bosman, FGC Blot, C Osório… - Brain …, 2021 - Wiley Online Library
Purkinje cells are the primary processing units of the cerebellar cortex and display molecular
heterogeneity that aligns with differences in physiological properties, projection patterns …

What genetics has told us and how it can inform future experiments for spinal muscular atrophy, a perspective

AJ Blatnik III, VL McGovern, AHM Burghes - International journal of …, 2021 - mdpi.com
Proximal spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative
disorder characterized by motor neuron loss and subsequent atrophy of skeletal muscle …

Loss of flocculus purkinje cell firing precision leads to impaired gaze stabilization in a mouse model of spinocerebellar ataxia type 6 (SCA6)

HHV Chang, AA Cook, AJ Watt, KE Cullen - Cells, 2022 - mdpi.com
Spinocerebellar Ataxia Type 6 (SCA6) is a mid-life onset neurodegenerative disease
characterized by progressive ataxia, dysarthria, and eye movement impairment. This …