The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies

L Ruano, C Melo, MC Silva, P Coutinho - Neuroepidemiology, 2014 - karger.com
Background: Hereditary cerebellar ataxias (HCA) and hereditary spastic paraplegias (HSP)
are two groups of neurodegenerative disorders that usually present with progressive gait …

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

A Durr - The Lancet Neurology, 2010 - thelancet.com
Cerebellar ataxias with autosomal dominant transmission are rare, but identification of the
associated genes has provided insight into the mechanisms that could underlie other forms …

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

L Schöls, P Bauer, T Schmidt, T Schulte… - The Lancet …, 2004 - thelancet.com
Autosomal dominant cerebellar ataxias are hereditary neurodegenerative disorders that are
known as spinocerebellar ataxias (SCA) in genetic nomenclature. In the pregenomic era …

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) …

[引用][C] DeJong's the neurologic examination

WW Campbell - 2005 - books.google.com
This classic text is a comprehensive, detailed guide to the neurologic examination. The book
provides a thorough understanding of both the techniques of the examination and the …

Protein‐misfolding diseases and chaperone‐based therapeutic approaches

TK Chaudhuri, S Paul - The FEBS journal, 2006 - Wiley Online Library
A large number of neurodegenerative diseases in humans result from protein misfolding and
aggregation. Protein misfolding is believed to be the primary cause of Alzheimer's disease …

[HTML][HTML] Hereditary ataxias: overview

S Jayadev, TD Bird - Genetics in Medicine, 2013 - Elsevier
The hereditary ataxias are a highly heterogeneous group of disorders phenotypically
characterized by gait ataxia, incoordination of eye movements, speech, and hand …

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

K Nakamura, SY Jeong, T Uchihara… - Human molecular …, 2001 - academic.oup.com
Genetic etiologies of at least 20% of autosomal dominant cerebellar ataxias (ADCAs) have
yet to be clarified. We identified a novel spinocerebellar ataxia (SCA) form in four Japanese …

Molecular basis of the neurodegenerative disorders

JB Martin - New England Journal of Medicine, 1999 - Mass Medical Soc
Neurodegenerative disorders, which are chronic and progressive, are characterized by
selective and symmetric loss of neurons in motor, sensory, or cognitive systems. Delineation …

[HTML][HTML] Genetics, mechanisms, and therapeutic progress in polyglutamine spinocerebellar ataxias

RAM Buijsen, LJA Toonen, SL Gardiner… - …, 2019 - Elsevier
Autosomal dominant cerebellar ataxias (ADCAs) are a group of neurodegenerative
disorders characterized by degeneration of the cerebellum and its connections. All ADCAs …