BACKGROUND Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease caused by SETX mutations in 9q34 resulting in cerebellar ataxia in association with peripheral neuropathy, cerebellar atrophy on imaging, an elevated alpha-fetoprotein (AFP) serum level, and occasional oculomotor apraxia. OBJECTIVE To describe the clinical and molecular findings of 7 patients with a clin...

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...

Mariella Pazzaglia from the IRCCS Fondazione Santa Lucia and University of Rome ‘La Sapienza’, in Rome describes a rapidly growing body of clinical research on the complex interplay of both production and comprehension mechanisms in actions derived from gesture comprehension studies described in patients with apraxia The inextricable link between action perception and action execution was repor...

Apraxia is traditionally defined as a disorder of skilled movement that cannot be attributed to elementary sensorimotor deficit, aphasia or severe mental deterioration (De Renzi, 1989). This negative definition has led to integrate within the same framework a multitude of relatively different clinical manifestations, which have little in common with the kind of deficits to which it was original...

background: ataxia with oculomotor apraxia type 1 (aoa1) shows early onset with autosomal recessive inheritance and is caused by a mutation in the aprataxin (aptx) gene encoding for the aptx protein. methods: in this study, a 7-year-old girl born of a first-cousin consanguineous marriage was described with early-onset progressive ataxia and aoa, with increased cholesterol concentration and decr...

Citation: Buchmann I, Jung R, Liepert J and Randerath J (2018) Assessing Anosognosia in Apraxia of Common Tool-Use With the VATA-NAT. Front. Hum. Neurosci. 12:119. doi: 10.3389/fnhum.2018.00119 In neurological patients, a lack of insight into their impairments can lead to possibly dangerous situations and non-compliance in rehabilitation therapy with worse rehabilitation outcomes as a result. T...

Limb apraxia was investigated with standardised tests in 14 patients whose CT scan provided evidence of a vascular lesion confined to the left basal ganglia, or the thalamus, or both, and not involving the cortex or adjacent white matter. Five patients were severely impaired in imitating movements and pantomiming object use. Four of them also performed poorly when tested with real objects. In t...

INTRODUCTION Cognitive and behavioral impairments are considered to occur frequently in amyotrophic lateral sclerosis/motor neuron disease (MND). Rarely, apraxia has been reported in MND. Orofacial, or buccofacial, apraxia is characterized by a loss of voluntary control of facial, lingual, pharyngeal and masticatory muscles in the presence of preserved reflexive and automatic functions of the s...

道具使用動作が特異的に障害される病態として 2 つの失行型が知られている。「使用の失行」と「パントマイムの失行」である。「使用の失行」と「パントマイムの失行」は, 道具の使用動作を表出する際の障害である点で共通するが, 前者は道具を把持した状態での動作時にみられる障害, 後者は道具を把持しない, パントマイムでの動作時にみられる障害である。つまりこの つの失行は, 道具を把持する, しないという, 課題遂行時の, 外界の条件の違いによって区別される。パントマイムや, 道具の使用を支える神経機構がそれぞれに存在すると仮定すると, こうした外界の条件の違いが, 神経機構を起動, 調整, 停止する「スイッチ」となっている可能性がある。本稿では道具の使用動作を取り巻く つの失行症状が出現するそれぞれの状況を確認した。