apraxias

Summary

Summary: A group of cognitive disorders characterized by the inability to perform previously learned skills that cannot be attributed to deficits of motor or sensory function. The two major subtypes of this condition are ideomotor (see APRAXIA, IDEOMOTOR) and ideational apraxia, which refers to loss of the ability to mentally formulate the processes involved with performing an action. For example, dressing apraxia may result from an inability to mentally formulate the act of placing clothes on the body. Apraxias are generally associated with lesions of the dominant PARIETAL LOBE and supramarginal gyrus. (From Adams et al., Principles of Neurology, 6th ed, pp56-7)

Top Publications

  1. D Arrigo S, Riva D, Bulgheroni S, Chiapparini L, Castellotti B, Gellera C, et al. Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis. J Child Neurol. 2008;23:895-900 pubmed publisher
    ..We report here the clinical features of 2 patients with mutations in the APTX gene, and we discuss the differential diagnosis with other forms of hereditary ataxia...
  2. Vanbellingen T, Kersten B, Van Hemelrijk B, Van de Winckel A, Bertschi M, Muri R, et al. Comprehensive assessment of gesture production: a new test of upper limb apraxia (TULIA). Eur J Neurol. 2010;17:59-66 pubmed publisher
    ..Therefore, the objective of the present study was to evaluate the reliability and validity of a newly developed test of upper limb apraxia (TULIA), which is comprehensive and still short to administer...
  3. Suraweera A, Becherel O, Chen P, Rundle N, Woods R, Nakamura J, et al. Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage. J Cell Biol. 2007;177:969-79 pubmed
    ..These results provide evidence that an additional member of the autosomal recessive AOA is also characterized by a defective response to DNA damage, which may contribute to the neurodegeneration seen in this syndrome...
  4. Roth H, Eskin T, Kendall D, Heilman K. Progressive oculo-orofacial-speech apraxia (POOSA). Neurocase. 2006;12:221-7 pubmed
    ..This patient's clinical presentation and the pathological correlates suggest that he might have suffered with a distinct disorder we call progressive oculo-orofacial-speech apraxia or POOSA...
  5. Power E, Code C, Croot K, Sheard C, Gonzalez Rothi L. Florida Apraxia Battery-Extended and revised Sydney (FABERS): design, description, and a healthy control sample. J Clin Exp Neuropsychol. 2010;32:1-18 pubmed publisher
  6. Cera M, Ortiz K. Phonological error analysis of acquired speech apraxia. Pro Fono. 2009;21:143-8 pubmed
    ..Generally, studies that have characterized the errors present in speech apraxia were developed in other languages other than the Brazilian Portuguese (BP). The existing national literature about this theme is based on these studies...
  7. Iuzzini J, Forrest K. Evaluation of a combined treatment approach for childhood apraxia of speech. Clin Linguist Phon. 2010;24:335-45 pubmed publisher
    ..The effectiveness of STP paired with mCVT is explained by principles of motor and phonological learning...
  8. Al Tassan N, Khalil D, Shinwari J, Al Sharif L, Bavi P, Abduljaleel Z, et al. A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. Hum Mutat. 2012;33:351-4 pubmed publisher
    ..Our characterization of the PIK3R5 protein and findings suggest that it may play a role in the development of the cerebellum and vermis...
  9. Fogel B, Perlman S. Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2. Neurology. 2006;67:2083-4 pubmed

More Information

Publications62

  1. Schaefer M, Heinze H, Galazky I. Alien hand syndrome: neural correlates of movements without conscious will. PLoS ONE. 2010;5:e15010 pubmed publisher
    ..This study aimed to examine neural correlates of this rare neurological disorder in a patient with corticobasal degeneration and alien hand syndrome of the left hand...
  2. Castellotti B, Mariotti C, Rimoldi M, Fancellu R, Plumari M, Caimi S, et al. Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients. Neurogenetics. 2011;12:193-201 pubmed publisher
    ..Our survey describes one of the largest series of AOA1 patients and contributes in defining clinical, molecular, and biochemical characteristics of this rare hereditary neurological condition...
  3. Feuk L, Kalervo A, Lipsanen Nyman M, Skaug J, Nakabayashi K, Finucane B, et al. Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Am J Hum Genet. 2006;79:965-72 pubmed
    ..Our results indicate that absence of paternal FOXP2 is the cause of DVD in patients with SRS with maternal UPD7. The data also point to a role for differential parent-of-origin expression of FOXP2 in human speech development...
  4. Josephs K, Duffy J. Apraxia of speech and nonfluent aphasia: a new clinical marker for corticobasal degeneration and progressive supranuclear palsy. Curr Opin Neurol. 2008;21:688-92 pubmed publisher
    ..To highlight the fact that patients with corticobasal degeneration (CBD) and progressive supranuclear palsy (PSP) can sometimes present with a progressive apraxia of speech, nonfluent aphasia, or a combination of the two disorders...
  5. Vernes S, Nicod J, Elahi F, Coventry J, Kenny N, Coupe A, et al. Functional genetic analysis of mutations implicated in a human speech and language disorder. Hum Mol Genet. 2006;15:3154-67 pubmed
    ..We hypothesize that expression of alternative isoforms of FOXP2 may provide mechanisms for post-translational regulation of transcription factor function...
  6. Anheim M, Fleury M, Franques J, Moreira M, Delaunoy J, Stoppa Lyonnet D, et al. Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families. Arch Neurol. 2008;65:958-62 pubmed publisher
  7. Ricci M, Magarelli M, Todino V, Bianchini A, Calandriello E, Tramutoli R. Progressive apraxia of speech presenting as isolated disorder of speech articulation and prosody: a case report. Neurocase. 2008;14:162-8 pubmed publisher
    ..Our findings highlight the importance of the left hemisphere in speech articulatory deficits and suggest that the left superior frontal gyrus plays a crucial role in specific articulatory processes...
  8. Gerstner E, Lazar R, Keller C, Honig L, Lazar G, Marshall R. A case of progressive apraxia of speech in pathologically verified Alzheimer disease. Cogn Behav Neurol. 2007;20:15-20 pubmed
    ..To present the case of a man with progressive speech loss and other clinical features and diagnostic tests consistent with fronto-temporal dementia but whose postmortem neuropathologic findings revealed Alzheimer disease (AD)...
  9. Gillon G, Moriarty B. Childhood apraxia of speech: children at risk for persistent reading and spelling disorder. Semin Speech Lang. 2007;28:48-57 pubmed
    ..The need for further empirical evaluation of treatment approaches designed to improve the spoken and written language outcomes of children with CAS is emphasized...
  10. Maas E, Farinella K. Random versus blocked practice in treatment for childhood apraxia of speech. J Speech Lang Hear Res. 2012;55:561-78 pubmed publisher
    ..Although there have been repeated suggestions in the literature to use random practice in CAS treatment, no systematic studies exist that have directly compared random with blocked practice in this population...
  11. Smania N, Aglioti S, Girardi F, Tinazzi M, Fiaschi A, Cosentino A, et al. Rehabilitation of limb apraxia improves daily life activities in patients with stroke. Neurology. 2006;67:2050-2 pubmed
    ..Apraxia severity was related with ADL independence. Control (aphasia) treatment improved patients' language and intelligence performance. Apraxia treatment specifically improved praxic function and ADL...
  12. Borroni B, Garibotto V, Agosti C, Brambati S, Bellelli G, Gasparotti R, et al. White matter changes in corticobasal degeneration syndrome and correlation with limb apraxia. Arch Neurol. 2008;65:796-801 pubmed publisher
    ..The structural abnormalities related to a key feature of CBDS (limb apraxia) are unknown...
  13. Tazir M, Ali Pacha L, M Zahem A, Delaunoy J, Fritsch M, Nouioua S, et al. Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients. J Neurol Sci. 2009;278:77-81 pubmed publisher
    ..Serum alpha-fetoprotein, which was elevated in all tested patients, was a good marker to suggest molecular studies of the SETX gene...
  14. Grigos M, Kolenda N. The relationship between articulatory control and improved phonemic accuracy in childhood apraxia of speech: a longitudinal case study. Clin Linguist Phon. 2010;24:17-40 pubmed publisher
    ..These findings suggest that motor processes may differ between children with CAS and their typically developing peers...
  15. Schols L, Arning L, Schule R, Epplen J, Timmann D. "Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2). J Neurol. 2008;255:495-501 pubmed publisher
    ..Clinically this family presented with a phenotype combining typical features of AOA2 and ALS4; thus extending the phenotypic spectrum of SETX mutations...
  16. Maas E, Robin D, Wright D, Ballard K. Motor programming in apraxia of speech. Brain Lang. 2008;106:107-18 pubmed publisher
    ..Together, the findings are consistent with the hypothesis of a process-specific, but central (modality-independent) deficit in AOS; alternative explanations are also discussed...
  17. Arning L, Schols L, Cin H, Souquet M, Epplen J, Timmann D. Identification and characterisation of a large senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2). Neurogenetics. 2008;9:295-9 pubmed publisher
    ..This duplication event occurred obviously by unequal homologous recombination between AluY sequences. Gross SETX deletions or duplications might be an underestimated cause of AOA2...
  18. Liu W, Narayanan V. Ataxia with oculomotor apraxia. Semin Pediatr Neurol. 2008;15:216-20 pubmed publisher
    ..We designate this condition as AOA-WM to call attention to the central demyelination seen in this variety of ataxia with oculomotor apraxia...
  19. Dovern A, Fink G, Saliger J, Karbe H, Koch I, Weiss P. Apraxia impairs intentional retrieval of incidentally acquired motor knowledge. J Neurosci. 2011;31:8102-8 pubmed publisher
    ..The data suggest that novel approaches for treating apraxia should focus on incidental motor learning, but that automatic rather than intentional retrieval strategies should be enforced...
  20. Takahashi T, Tada M, Igarashi S, Koyama A, Date H, Yokoseki A, et al. Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends. Nucleic Acids Res. 2007;35:3797-809 pubmed
    ..The findings will provide new insight into the mechanism underlying degeneration and DNA repair in neurons...
  21. Moriarty B, Gillon G. Phonological awareness intervention for children with childhood apraxia of speech. Int J Lang Commun Disord. 2006;41:713-34 pubmed
    ..The three children presented with severely delayed phonological awareness skills before intervention...
  22. Tumbale P, Appel C, Kraehenbuehl R, Robertson P, Williams J, Krahn J, et al. Structure of an aprataxin-DNA complex with insights into AOA1 neurodegenerative disease. Nat Struct Mol Biol. 2011;18:1189-95 pubmed publisher
  23. Bernard V, Stricker S, Kreuz F, Minnerop M, Gillessen Kaesbach G, Zuhlke C. Ataxia with oculomotor apraxia type 2: novel mutations in six patients with juvenile age of onset and elevated serum alpha-fetoprotein. Neuropediatrics. 2008;39:347-50 pubmed publisher
    ..By molecular testing the clinical diagnosis has been confirmed in all patients...
  24. Crutch S, Rossor M, Warrington E. The quantitative assessment of apraxic deficits in Alzheimer's disease. Cortex. 2007;43:976-86 pubmed
  25. Yoon G, Westmacott R, MacMillan L, Quercia N, Koutsou P, Georghiou A, et al. Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit. J Neurol Neurosurg Psychiatry. 2008;79:234-6 pubmed publisher
  26. Bernard V, Minnerop M, Burk K, Kreuz F, Gillessen Kaesbach G, Z├╝hlke C. Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2. BMC Med Genet. 2009;10:87 pubmed publisher
    ..AOA2 is caused by mutations within the senataxin gene (SETX). The majority of known mutations are nonsense, missense, and splice site mutations, as well as small deletions and insertions...
  27. Ballard K, Robin D, McCabe P, McDonald J. A treatment for dysprosody in childhood apraxia of speech. J Speech Lang Hear Res. 2010;53:1227-45 pubmed publisher
    ..g., BAtigu or baTIgu). Treatment sessions were structured along the principles of motor learning (PML) approach...
  28. Buxbaum L, Haaland K, Hallett M, Wheaton L, Heilman K, Rodriguez A, et al. Treatment of limb apraxia: moving forward to improved action. Am J Phys Med Rehabil. 2008;87:149-61 pubmed publisher
  29. Edeal D, Gildersleeve Neumann C. The importance of production frequency in therapy for childhood apraxia of speech. Am J Speech Lang Pathol. 2011;20:95-110 pubmed publisher
  30. Caldecott K. Single-strand break repair and genetic disease. Nat Rev Genet. 2008;9:619-31 pubmed publisher
    ..Here, the molecular mechanisms and organization of the DNA-repair pathways that remove SSBs are reviewed and the connection between defects in these pathways and hereditary neurodegenerative disease are discussed...
  31. Carter P, Edwards S. EPG therapy for children with long-standing speech disorders: predictions and outcomes. Clin Linguist Phon. 2004;18:359-72 pubmed
    ..The selection of appropriate candidates for therapy and the need for objective means of establishing effectiveness are discussed...
  32. Leiguarda R. Apraxias and the lateralization of motor functions in the human parietal lobe. Adv Neurol. 2003;93:235-48 pubmed
  33. Croot K. Diagnosis of AOS: definition and criteria. Semin Speech Lang. 2002;23:267-80 pubmed
  34. Shimazaki H, Takiyama Y, Sakoe K, Ikeguchi K, Niijima K, Kaneko J, et al. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations. Neurology. 2002;59:590-5 pubmed
    ..A new clinical entity named early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH) has been proposed to explain these two diseases...
  35. Gueven N, Becherel O, Kijas A, Chen P, Howe O, Rudolph J, et al. Aprataxin, a novel protein that protects against genotoxic stress. Hum Mol Genet. 2004;13:1081-93 pubmed
    ..These results demonstrate that aprataxin influences the cellular response to genotoxic stress very likely by its capacity to interact with a number of proteins involved in DNA repair...
  36. Amouri R, Moreira M, Zouari M, El Euch G, Barhoumi C, Kefi M, et al. Aprataxin gene mutations in Tunisian families. Neurology. 2004;63:928-9 pubmed
    ..Two novel mutations were identified, the complete deletion of the gene, which seems to not correlate with an increased severity of the disease, and a splice mutation on the acceptor splice site of exon 7...
  37. Ozsancak C, Auzou P, Hannequin D. Dysarthria and orofacial apraxia in corticobasal degeneration. Mov Disord. 2000;15:905-10 pubmed
    ..Thus, when specifically assessed, dysarthria and OFA are more frequent in CBD than usually reported. We propose that the underlying pathophysiology is the result of a deficit in programming and execution of repetitive movements...
  38. Josephs K, Boeve B, Duffy J, Smith G, Knopman D, Parisi J, et al. Atypical progressive supranuclear palsy underlying progressive apraxia of speech and nonfluent aphasia. Neurocase. 2005;11:283-96 pubmed
    ..These cases demonstrate that atypical PSP can present as AOS and PNFA without the classic features of PSP...
  39. Date H, Onodera O, Tanaka H, Iwabuchi K, Uekawa K, Igarashi S, et al. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nat Genet. 2001;29:184-8 pubmed
    ..We have called its product aprataxin; the gene symbol is APTX. Although many HIT proteins have been identified, aprataxin is the first to be linked to a distinct phenotype...
  40. Cubelli R, Marchetti C, Boscolo G, Della Sala S. Cognition in action: testing a model of limb apraxia. Brain Cogn. 2000;44:144-65 pubmed
    ..These results support the need to overcome the simplistic dichotomous view of apraxia and confirm the fruitfulness of a model of normal gesture processing in order to understand dissociations in apraxia...
  41. Becherel O, Gueven N, Birrell G, Schreiber V, Suraweera A, Jakob B, et al. Nucleolar localization of aprataxin is dependent on interaction with nucleolin and on active ribosomal DNA transcription. Hum Mol Genet. 2006;15:2239-49 pubmed
    ..These results demonstrate a cross-dependence between aprataxin and nucleolin in the nucleolus and while aprataxin does not appear to be directly involved in rRNA synthesis its nucleolar localization is dependent on this synthesis...
  42. Joshi A, Roy E, Black S, Barbour K. Patterns of limb apraxia in primary progressive aphasia. Brain Cogn. 2003;53:403-7 pubmed
    ..Considering the occurrence of apraxia in this population, this study supports the idea that a comprehensive apraxia assessment should be administered in cases of PPA...
  43. Aboitiz F, Carrasco X, Schroter C, Zaidel D, Zaidel E, Lavados M. The alien hand syndrome: classification of forms reported and discussion of a new condition. Neurol Sci. 2003;24:252-7 pubmed
  44. Le Ber I, Bouslam N, Rivaud Pechoux S, Guimaraes J, Benomar A, Chamayou C, et al. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. Brain. 2004;127:759-67 pubmed
    ..In adults, AOA2 may be, therefore, the most frequent cause of ARCA identified so far, after Friedreich's ataxia...
  45. Nijland L, Maassen B, van der Meulen S, Gabreels F, Kraaimaat F, Schreuder R. Coarticulation patterns in children with developmental apraxia of speech. Clin Linguist Phon. 2002;16:461-83 pubmed
    ..These results are discussed in the light of a delay as well as a deviance of speech development in children with DAS...
  46. Lewis B, Freebairn L, Hansen A, Gerry Taylor H, Iyengar S, Shriberg L. Family pedigrees of children with suspected childhood apraxia of speech. J Commun Disord. 2004;37:157-75 pubmed
    ..If our inclusionary criteria for CAS are valid, these findings support a general verbal trait deficit hypothesis...
  47. Lewis B, Freebairn L, Hansen A, Iyengar S, Taylor H. School-age follow-up of children with childhood apraxia of speech. Lang Speech Hear Serv Sch. 2004;35:122-40 pubmed
    ..The primary aim of this study was to examine differences in speech/language and written language skills between children with suspected childhood apraxia of speech (CAS) and children with other speech-sound disorders at school age...
  48. Clements P, Breslin C, Deeks E, Byrd P, Ju L, Bieganowski P, et al. 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. DNA Repair (Amst). 2004;3:1493-502 pubmed
    ..Aprataxin is therefore physically associated with both the DNA single-strand and double-strand break repair machinery, raising the possibility that AOA1 is a novel DNA damage response-defective disease...
  49. Roy E, Black S, Blair N, Dimeck P. Analyses of deficits in gestural pantomime. J Clin Exp Neuropsychol. 1998;20:628-43 pubmed
    ..Analyses of intrahemispheric lesion localization implicated damage to subcortical areas involving periventricular white matter tracts at the temporoparietal junction with apraxia...
  50. Donkervoort M, Dekker J, van den Ende E, Stehmann Saris J, Deelman B. Prevalence of apraxia among patients with a first left hemisphere stroke in rehabilitation centres and nursing homes. Clin Rehabil. 2000;14:130-6 pubmed
    ..To investigate the prevalence of apraxia in patients with a first left hemisphere stroke...
  51. Velleman S, Shriberg L. Metrical analysis of the speech of children with suspected developmental apraxia of speech. J Speech Lang Hear Res. 1999;42:1444-60 pubmed
    ..Further metrical studies of the speech of children with suspected SD-DAS are needed, both at the lexical and the sentential level, using both perceptual and acoustic measures...
  52. Moreira M, Barbot C, Tachi N, Kozuka N, Uchida E, Gibson T, et al. The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nat Genet. 2001;29:189-93 pubmed
  53. Derouesne C, Lagha Pierucci S, Thibault S, Baudouin Madec V, Lacomblez L. Apraxic disturbances in patients with mild to moderate Alzheimer's disease. Neuropsychologia. 2000;38:1760-9 pubmed
    ..Impairment in the ability to perform everyday activities was correlated to disturbances of the conceptual system whereas poor performances in tasks exploring the production system or in using real objects were not...