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 …

Antisense oligonucleotides: the next frontier for treatment of neurological disorders

C Rinaldi, MJA Wood - Nature Reviews Neurology, 2018 - nature.com
Antisense oligonucleotides (ASOs) were first discovered to influence RNA processing and
modulate protein expression over two decades ago; however, progress translating these …

The cerebellar cognitive affective/Schmahmann syndrome scale

F Hoche, X Guell, MG Vangel, JC Sherman… - Brain, 2018 - academic.oup.com
Cerebellar cognitive affective syndrome (CCAS; Schmahmann's syndrome) is characterized
by deficits in executive function, linguistic processing, spatial cognition, and affect regulation …

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 …

Neuropathology of genetic synucleinopathies with parkinsonism: review of the literature

SA Schneider, RN Alcalay - Movement Disorders, 2017 - Wiley Online Library
Clinical–pathological studies remain the gold‐standard for the diagnosis of Parkinson's
disease (PD). However, mounting data from genetic PD autopsies challenge the diagnosis …

Molecular pathological classification of neurodegenerative diseases: turning towards precision medicine

GG Kovacs - International journal of molecular sciences, 2016 - mdpi.com
Neurodegenerative diseases (NDDs) are characterized by selective dysfunction and loss of
neurons associated with pathologically altered proteins that deposit in the human brain but …

[HTML][HTML] Antisense oligonucleotides in therapy for neurodegenerative disorders

MM Evers, LJA Toonen… - Advanced drug delivery …, 2015 - Elsevier
Antisense oligonucleotides are synthetic single stranded strings of nucleic acids that bind to
RNA and thereby alter or reduce expression of the target RNA. They can not only reduce …

[HTML][HTML] Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease

J Wallenius, E Kafantari, E Jhaveri, S Gorcenco… - The American Journal of …, 2024 - cell.com
Autosomal-dominant ataxia with sensory and autonomic neuropathy is a highly specific
combined phenotype that we described in two Swedish kindreds in 2014; its genetic cause …

H untington's disease (HD): The Neuropathology of a Multisystem Neurodegenerative Disorder of the Human Brain

U Rüb, K Seidel, H Heinsen, JP Vonsattel… - Brain …, 2016 - Wiley Online Library
Huntington's disease (HD) is an autosomal dominantly inherited, and currently untreatable,
neuropsychiatric disorder. This progressive and ultimately fatal disease is named after the …

Cerebellar contribution to social cognition

F Hoche, X Guell, JC Sherman, MG Vangel… - The Cerebellum, 2016 - Springer
Emotion attribution (EA) from faces is key to social cognition, and deficits in perception of
emotions from faces underlie neuropsychiatric disorders in which cerebellar pathology is …