Disease relevance of Apraxias

• NPHP may be associated with Leber congenital amaurosis, tapeto-retinal degeneration, cerebellar ataxia, cone-shaped epiphyses, congenital oculomotor apraxia and hepatic fibrosis [1].
• Ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome [AOA]; MIM 208920) is an autosomal recessive disorder characterized by ataxia, oculomotor apraxia, and choreoathetosis [2].
• All cases have a homogeneous phenotype consisting of a progressive ataxia appearing between 2 and 20 (mean age, 14.8) years of age with associated dysarthria, saccadic ocular pursuit, distal amyotrophy, sensory and motor neuropathy, and increased alpha-fetoprotein levels but absence of oculomotor apraxia [3].
• Early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH) is an autosomal recessive neurodegenerative disorder characterized by early-onset ataxia, ocular motor apraxia, and hypoalbuminemia [4].
• We report 3 patients with progressive supranuclear palsy (PSP) who developed limb apraxia, focal dystonia, and arm levitation late in the course of the disease [5].

Psychiatry related information on Apraxias

• BACKGROUND: Mutism/speech apraxia has been well documented as a toxic effect of cyclosporine after liver transplantation but has been reported only rarely with tacrolimus [6].
• The results suggest that language disorder and apraxia specifically identify a distinct clinical entity, Familial Alzheimer Dementia, that is among the commonest forms of senile dementia [7].
• Increasing evidence, reviewed here, indicates that LC-PUFA deficiencies or imbalances are associated with childhood developmental and psychiatric disorders including ADHD, dyslexia, dyspraxia, and autistic spectrum disorders [8].
• Conceptual apraxia in probable Alzheimer's disease as demonstrated by the Florida Action Recall Test [9].
• The most common adverse events (>10%) during lithium treatment were dyspraxia, tremor, xerostomia, headache, infection, amnesia, dizziness, diarrhea, nausea, and fatigue [10].

High impact information on Apraxias

• We have now identified causative mutations in 15 families, which allows us to clinically define this entity by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein (AFP) [11].
• Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2 [11].
• Nephronophthisis can also be associated with conditions affecting extrarenal organs, such as retinitis pigmentosa (Senior-Løken syndrome) and ocular motor apraxia (Cogan syndrome) [12].
• The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin [13].
• Here, we report investigations of the entire coding region of FOXP2, including alternatively spliced exons, in 49 probands affected with verbal dyspraxia [14].

Chemical compound and disease context of Apraxias

• Visuomotor apraxia has traditionally been assumed to result from a disconnection of cortico-cortical fibres between visual and motor areas following occipito-parietal lesions [15].
• Seven patients, presenting CSWS associated with neuropsychological deterioration (isolated aphasia, three cases; language disturbances with more widespread cognitive deterioration, three cases; isolated apraxia, one case) were studied using PET with [18F]fluorodeoxyglucose (FDG) [16].
• Isolated eyelid-opening apraxia: report of a new levodopa-responsive syndrome [17].
• Using each cut-off score, the regional cerebral glucose metabolism of patients with CBD with apraxia (i.e., performing below cut-off score) was compared with that of patients with CBD without apraxia [18].
• Reported is a 19-year-old manic-depressive patient who developed persistent dysarthria with coexisting apraxia while on a combination of high dose haloperidol and lithium carbonate [19].

Biological context of Apraxias

• In multiple members of the well-studied KE family, a heterozygous missense mutation in FOXP2 causes problems in sequencing muscle movements required for articulating speech (developmental verbal dyspraxia), accompanied by wider deficits in linguistic and grammatical processing [14].
• Complications included visual field deficits, weakness, fatigue, hypersomnia, drooling, dysphagia, speech disorders, hiccups, hemorrhage, seizures, apraxia, coma, infection, mental confusion, and impaired memory [20].
• The oculomotor apraxia in Joubert syndrome differs from congenital idiopathic oculomotor apraxia in that both volitional saccades and quick phases of nystagmus were impaired both in the horizontal and vertical directions, and the defects did not resolve with time [21].
• Chromosomal translocation in a child with SLI and apraxia [22].
• Her deletion is on the paternally inherited chromosome and includes the FOXP2 gene, which has recently been associated with speech and language impairment and a similar form of oromotor dyspraxia in at least three other published cases [23].

Anatomical context of Apraxias

• Ever since Liepmann's original descriptions at the beginning of the century apraxia has usually been attributed to damage confined to the cerebral cortex and/or cortico-cortical connecting pathways [24].
• These findings suggest that apraxia in HD results from damage to the corticostriate pathways and the basal ganglia rather than from damage restricted to the basal ganglia [25].
• I describe a boy with lambdoid craniosynostosis, severe global developmental delay, epilepsy, oculomotor dyspraxia, very thin corpus callosum, and minor anomalies [26].
• The other three syndromes are autosomal dominant partial epilepsy with variable foci, autosomal dominant rolandic epilepsy with speech dyspraxia, and familial temporal lobe epilepsy [27].
• We describe a 34 year old woman presenting with a 25 year history of segmental dystonia with apraxia of eyelid opening, orofacial and focal upper limb dystonia following an episode of meningoencephalitis [28].

Gene context of Apraxias

• The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4 [29].
• We studied a 27-year-old woman who died after a 6-year history of progressive dementia, dystonia, ataxia, apraxia, spasticity, choreoathetosis, visual and auditory hallucinations, and optic atrophy [30].
• Aprataxin, a Hint branch hydrolase, is mutated in ataxia-oculomotor apraxia syndrome [31].
• Unusual computed tomographic findings were observed in four patients with congenital ocular motor apraxia (COMA) [32].
• However, the complications seen in galactosemia, in particular ovarian dysfunction and verbal dyspraxia, suggest organ-specific sensitivity to lack of GALT activity [33].

Analytical, diagnostic and therapeutic context of Apraxias

• Constructional dyspraxia was detected in 94.1% of SD either with or without strabismus, while it was rare in the control group [34].

References