Autosomal‐dominant spinocerebellar ataxias, autosomal‐recessive spinocerebellar ataxias,
and hereditary spastic paraplegias have traditionally been designated in separate …

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 …

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 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 …

Background Heterozygous GAA expansions in the FGF14 gene have been related to
autosomal dominant cerebellar ataxia (SCA27B‐MIM: 620174). Whether they represent a …

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 …

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 …

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 …

Cerebellar ataxia (CA) and hereditary spastic paraplegia (HSP) are two of the most
prevalent motor disorders with extensive locus and allelic heterogeneity. We implemented …

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 …