Overcoming the divide between ataxias and spastic paraplegias: shared phenotypes, genes, and pathways
M Synofzik, R Schüle - Movement Disorders, 2017 - Wiley Online Library
Autosomal‐dominant spinocerebellar ataxias, autosomal‐recessive spinocerebellar ataxias,
and hereditary spastic paraplegias have traditionally been designated in separate …
and hereditary spastic paraplegias have traditionally been designated in separate …
Defining the riddle in order to solve it: there is more than one “Parkinson's disease”
Background More than 200 years after James Parkinsondescribed a clinical syndrome
based on his astute observations, Parkinson's disease (PD) has evolved into a complex …
based on his astute observations, Parkinson's disease (PD) has evolved into a complex …
The genetic nomenclature of recessive cerebellar ataxias
The recessive cerebellar ataxias are a large group of degenerative and metabolic disorders,
the diagnostic management of which is difficult because of the enormous clinical and …
the diagnostic management of which is difficult because of the enormous clinical and …
Genetic mimics of cerebral palsy
The term “cerebral palsy mimic” is used to describe a number of neurogenetic disorders that
may present with motor symptoms in early childhood, resulting in a misdiagnosis of cerebral …
may present with motor symptoms in early childhood, resulting in a misdiagnosis of cerebral …
Natural History and Phenotypic Spectrum of GAA‐FGF14 Sporadic Late‐Onset Cerebellar Ataxia (SCA27B)
Background Heterozygous GAA expansions in the FGF14 gene have been related to
autosomal dominant cerebellar ataxia (SCA27B‐MIM: 620174). Whether they represent a …
autosomal dominant cerebellar ataxia (SCA27B‐MIM: 620174). Whether they represent a …
As frequent as polyglutamine spinocerebellar ataxias: SCA27B in a large German autosomal dominant ataxia cohort
H Hengel, D Pellerin, C Wilke, Z Fleszar… - Movement …, 2023 - Wiley Online Library
Intronic GAA repeat expansions in the fibroblast growth factor 14 gene (FGF14) have
recently been shown to be a common cause of adult-onset degenerative ataxia …
recently been shown to be a common cause of adult-onset degenerative ataxia …
Nonmotor features of Parkinson's disease subtypes
C Marras, KR Chaudhuri - Movement Disorders, 2016 - Wiley Online Library
Parkinson's disease is highly heterogeneous in early clinical features and later outcomes.
This makes classifying subgroups of PD relevant to clinical research and practice …
This makes classifying subgroups of PD relevant to clinical research and practice …
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders
BP van De Warrenburg, MI Schouten… - European Journal of …, 2016 - nature.com
Cerebellar ataxia (CA) and hereditary spastic paraplegia (HSP) are two of the most
prevalent motor disorders with extensive locus and allelic heterogeneity. We implemented …
prevalent motor disorders with extensive locus and allelic heterogeneity. We implemented …
Milestones in ataxia
T Klockgether, H Paulson - Movement Disorders, 2011 - Wiley Online Library
The past 25 years have seen enormous progress in the deciphering of the genetic and
molecular basis of ataxias, resulting in improved understanding of their pathogenesis. The …
molecular basis of ataxias, resulting in improved understanding of their pathogenesis. The …
The genetics of P arkinson's disease: Progress and therapeutic implications
AB Singleton, MJ Farrer, V Bonifati - Movement Disorders, 2013 - Wiley Online Library
The past 15 years has witnessed tremendous progress in our understanding of the genetic
basis for Parkinson's disease (PD). Notably, whereas most mutations, such as those in …
basis for Parkinson's disease (PD). Notably, whereas most mutations, such as those in …