BACKGROUND Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by cerebellar atrophy, peripheral neuropathy, oculomotor apraxia, and elevated serum alpha-fetoprotein (AFP) levels. The disease is caused by a recessive mutation in the senataxin gene. Since it is a very rare cerebellar disorder, no detailed examination of cognitive functions in AOA2 has been published to date. The aim of...

P/Q-type voltage-dependent Ca(2+) channels (VDCCs) are highly expressed in the cerebellum, and mutations of these channels are associated with disrupted motor function. Several allelic variants of the alpha1A pore-forming subunit of P/Q-type VDCCs have been described, and mice homozygous for these mutations exhibit gait ataxia, as do alpha1A knockout mice. Here we report that heterozygous alpha...

OBJECTIVES To compare the effect of motor learning with that of standard exercise on measures of mobility and perceived function and disability. DESIGN Single-blind randomized trial. SETTING University research center. PARTICIPANTS Older adults (n = 40) with a mean age of 77.1 ± 6.0, normal walking speed (≥ 1.0 m/s), and impaired motor skills (Figure of 8 walk time >8 seconds). INTERVEN...

Ataxia with Oculomotor Apraxia type 2 (AOA2) is one of the most frequent types of autosomal degenerative cerebellar ataxia. The first objective of this work was to identify specific cerebellar atrophy using MRI in patients with AOA2. Since increased iron deposits have been reported in degenerative diseases, our second objective was to report iron deposits signals in the dentate nuclei in AOA2. ...

Previous studies on fine and gross motor skills of children with childhood apraxia speech (CAS) have reported inconclusive results. In this study, we investigate the abilities CAS by focusing three distinct factors: control during movement, skills/handwriting, general coordination. Participants included 25 20 age-matched typically developing (TD) between ages 5 7 years. Motor were evaluated usi...

Many children with Down syndrome have difficulty with speech intelligibility. The present study used a parent survey to learn more about a specific factor that affects speech intelligibility, i.e. childhood verbal apraxia. One of the factors that affects speech intelligibility for children with Down syndrome is difficulty with voluntarily programming, combining, organising, and sequencing the m...

A two-year-old boy, born of non-consanguineous marriage was brought with delayed motor and language milestones. The parents had also noted abnormal eye movements and periodic breathing difficulty since early infancy. The child was third of three sibs and the other two sibs were normal. On examination, the child was hypotonic and mentally retarded and had severe truncal ataxia and oculomotor apr...

This study evaluated whether apraxia can be understood as due to impaired motor representations or motor imagery necessary for appropriate object-use, imitation, and pantomime. The causal role of the left inferior parietal lobe (IPL), which is heavily implicated in apraxia, is also evaluated. These processes are appraised in light of the proposed ventro-dorsal sub-stream of the classic two visu...

BACKGROUND Apraxia is a cognitive disorder that can occur after stroke. It prevents a person from carrying out a learned movement. Various interventions are used to treat apraxia but evidence of their benefit has been lacking. OBJECTIVES To determine which therapeutic interventions targeted at motor apraxia reduce disability. SEARCH STRATEGY We searched the Cochrane Stroke Group Trials Regi...