Spinocerebellar ataxias: prospects and challenges for therapy development

T Ashizawa, G Öz, HL Paulson - Nature Reviews Neurology, 2018 - nature.com
The spinocerebellar ataxias (SCAs) comprise more than 40 autosomal dominant
neurodegenerative disorders that present principally with progressive ataxia. Within the past …

Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7

U Rüb, L Schöls, H Paulson, G Auburger… - Progress in …, 2013 - Elsevier
The spinocerebellar ataxias type 1 (SCA1), 2 (SCA2), 3 (SCA3), 6 (SCA6) and 7 (SCA7) are
genetically defined autosomal dominantly inherited progressive cerebellar ataxias (ADCAs) …

[HTML][HTML] A systematic review of the gait characteristics associated with Cerebellar Ataxia

E Buckley, C Mazzà, A McNeill - Gait & posture, 2018 - Elsevier
Abstract Background Cerebellar Ataxias are a group of gait disorders resulting from
dysfunction of the cerebellum, commonly characterised by slowly progressing incoordination …

Gait variability in spinocerebellar ataxia assessed using wearable inertial sensors

VV Shah, R Rodriguez‐Labrada, FB Horak… - Movement …, 2021 - Wiley Online Library
Background Quantitative assessment of severity of ataxia‐specific gait impairments from
wearable technology could provide sensitive performance outcome measures with high face …

Neurological disorders of gait, balance and posture: a sign-based approach

J Nonnekes, RJM Goselink, E Růžička… - Nature Reviews …, 2018 - nature.com
Neurological disorders of gait, balance and posture are both debilitating and common.
Adequate recognition of these so-called disorders of axial mobility is important as they can …

Assessment of ataxia rating scales and cerebellar functional tests: critique and recommendations

S Perez‐Lloret, B Van de Warrenburg… - Movement …, 2021 - Wiley Online Library
Background We assessed the clinimetric properties of ataxia rating scales and functional
tests, and made recommendations regarding their use. Methods A systematic literature …

Neuronal atrophy early in degenerative ataxia is a compensatory mechanism to regulate membrane excitability

JM Dell'Orco, AH Wasserman, R Chopra… - Journal of …, 2015 - Soc Neuroscience
Neuronal atrophy in neurodegenerative diseases is commonly viewed as an early event in a
continuum that ultimately results in neuronal loss. In a mouse model of the polyglutamine …

A longitudinal investigation into cognition and disease progression in spinocerebellar ataxia types 1, 2, 3, 6, and 7

A Moriarty, A Cook, H Hunt, ME Adams… - Orphanet Journal of …, 2016 - Springer
Background The natural history of clinical symptoms in the spinocerebellar ataxias (SCA) s
has been well characterised. However there is little longitudinal data comparing cognitive …

Longitudinal study of cognitive and psychiatric functions in spinocerebellar ataxia types 1 and 2

R Fancellu, D Paridi, C Tomasello, M Panzeri… - Journal of …, 2013 - Springer
The role of the cerebellum in cognition, both in healthy subjects and in patients with
cerebellar diseases, is debated. Neuropsychological studies in spinocerebellar ataxia type 1 …

Real-time gait phase detection on wearable devices for real-world free-living gait

J Wu, B Becsek, A Schaer… - IEEE Journal of …, 2022 - ieeexplore.ieee.org
Detecting gait phases with wearables unobtrusively and reliably in real-time is important for
clinical gait rehabilitation and early diagnosis of neurological diseases. Due to hardware …