Spinocerebellar ataxia

T Klockgether, C Mariotti, HL Paulson - Nature reviews Disease primers, 2019 - nature.com
The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal
dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance …

Spinocerebellar ataxia: an update

R Sullivan, WY Yau, E O'Connor, H Houlden - Journal of neurology, 2019 - Springer
Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic
disorders with autosomal dominant inheritance. We aim to provide an update on the recent …

Polyglutamine spinocerebellar ataxias—from genes to potential treatments

HL Paulson, VG Shakkottai, HB Clark… - Nature Reviews …, 2017 - nature.com
The dominantly inherited spinocerebellar ataxias (SCAs) are a large and diverse group of
neurodegenerative diseases. The most prevalent SCAs (SCA1, SCA2, SCA3, SCA6 and …

Ion channel dysfunction in cerebellar ataxia

DD Bushart, VG Shakkottai - Neuroscience letters, 2019 - Elsevier
Cerebellar ataxias constitute a heterogeneous group of disorders that result in impaired
speech, uncoordinated limb movements, and impaired balance, often ultimately resulting in …

Why do so many genetic insults lead to Purkinje Cell degeneration and spinocerebellar ataxia?

M Huang, DS Verbeek - Neuroscience letters, 2019 - Elsevier
The genetically heterozygous spinocerebellar ataxias are all characterized by cerebellar
atrophy and pervasive Purkinje Cell degeneration. Up to date, more than 35 functionally …

Chorea in children: etiology, diagnostic approach and management

JF Baizabal-Carvallo, F Cardoso - Journal of Neural Transmission, 2020 - Springer
Chorea is defined by the presence of abnormal, involuntary, continuous, random
movements that results from a number of autoimmune, hereditary, vascular, metabolic, drug …

MANF regulates hypothalamic control of food intake and body weight

S Yang, H Yang, R Chang, P Yin, Y Yang… - Nature …, 2017 - nature.com
The hypothalamus has a vital role in controlling food intake and energy homeostasis; its
activity is modulated by neuropeptides and endocrine factors. Mesencephalic astrocyte …

The molecular mechanisms of spinocerebellar ataxias for DNA repeat expansion in disease

M Kumar, N Tyagi, M Faruq - Emerging Topics in Life Sciences, 2023 - portlandpress.com
Spinocerebellar ataxias (SCAs) are a heterogenous group of neurodegenerative disorders
which commonly inherited in an autosomal dominant manner. They cause muscle …

Epidemiology of inherited cerebellar ataxias and challenges in clinical research

F Pilotto, S Saxena - Clinical and translational neuroscience, 2018 - journals.sagepub.com
Cerebellar ataxia is a clinically heterogeneous group of disorders, which includes several
well-characterized genetic diseases as well as sporadic ataxias. The pathophysiology of …

Piperine ameliorates SCA17 neuropathology by reducing ER stress

J Guo, Y Cui, Q Liu, Y Yang, Y Li, L Weng… - Molecular …, 2018 - Springer
Abstract Background Spinocerebellar ataxia 17 (SCA17) belongs to the family of
neurodegenerative diseases caused by polyglutamine (polyQ) expansion. In SCA17, polyQ …