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Background and purpose Bradykinesia is one of the cardinal motor symptoms of Parkinson's
disease. However, clinical and experimental studies indicate that bradykinesia may also be …

Abstract ATP5F1B is a subunit of the mitochondrial ATP synthase or complex V of the
mitochondrial respiratory chain. Pathogenic variants in nuclear genes encoding assembly …

Introduction Both prevalence and clinical features of the various movement disorders in
adults with primary mitochondrial diseases are unknown. Methods Based on the database of …

Cerebellar ataxia is a hallmark of coenzyme Q 10 (CoQ 10) deficiency associated with
COQ8A mutations. We present four patients, one with novel COQ8A pathogenic variants all …

Dystonia is characterized by excessive muscle contractions leading to abnormal posturing
or movements, typically worsening with voluntary action and overflow muscle activation [1] …

Tremor, the most common movement disorder, may occur in isolation or may co-exist with a
variety of other neurologic and movement disorders including parkinsonism, dystonia, and …

Hereditary ataxias are a group of rare neurological disorders, affecting the cerebellum and
its afferent and efferent pathways. To date, more than 100 causative genes have been …

Movement disorders are increasingly being recognized as a manifestation of childhood-
onset mitochondrial diseases (MDs). However, the spectrum and characteristics of these …

Abstract Background Primary mitochondrial diseases (PMDs) are the most common inborn
errors of energy metabolism, with a combined prevalence of 1 in 4300. They can result from …