nach oben

Erschienen in:

01.02.2015 | Original Communication

Theory of mind, empathy and neuropsychological functioning in X-linked Spinal and Bulbar Muscular Atrophy: a controlled study of 20 patients

verfasst von: Elisa Di Rosa, Gianni Sorarù, Johann Roland Kleinbub, Vincenzo Calvo, Antonino Vallesi, Giorgia Querin, Sonia Marcato, Irene Grasso, Arianna Palmieri

Erschienen in: Journal of Neurology | Ausgabe 2/2015

Einloggen, um Zugang zu erhalten

Abstract

Recent studies have described brain involvement, mainly at frontal level, in patients with spinal and bulbar muscular atrophy (SBMA), a rare adult-onset motor neuron disease caused by a CAG repeat in the androgen receptor (AR) gene. The aim of our research was to investigate the poorly characterized neuropsychological and psychological profile of these patients, on the basis of previous literature. We administered a neuropsychological screening and tests relating to cognitive and affective empathy, attributed to the theory of mind (ToM) framework, to 20 males with SBMA, and to age- and education-matched controls. Although patients’ neuropsychological performance was unimpaired, a clear dissociation emerged between their cognitive and affective empathy. Patients had distinctive deficits in mentalizing, as assessed with the Faux Pas Test, whilst affective empathy (i.e., sharing experience), assessed with the Reading the Mind in the Eyes test, appeared to be preserved. The likely implications of subtle frontal lobe impairments on the one hand, and a protective influence of androgen insensitivity in these patients on the other, are discussed in the light of our results.

Kennedy WR, Alter M, Sung JH (1968) Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. Neurology 18(7):671–680CrossRefPubMed

Beitel LK, Alvarado C, Mokhtar S, Paliouras M, Trifiro M (2013) Mechanisms mediating spinal and bulbar muscular atrophy: investigations into polyglutamine-expanded androgen receptor function and dysfunction. Front Neurol 4:53PubMedCentralCrossRefPubMed

La Spada AR, Wilson EM, Lubahn DB, Harding A, Fischbeck KH (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352(6330):77–79CrossRefPubMed

Parodi S, Pennuto M (2011) Neurotoxic effects of androgens in spinal and bulbar muscular atrophy. Front Neuroendocrinol 32(4):416–425. doi:10.1016/j.yfrne.2011.06.003 CrossRefPubMed

Schmidt BJ, Greenberg CR, Allingham-Hawkins DJ, Spriggs EL (2002) Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women. Neurology 59(5):770–772CrossRefPubMed

Torralva T, Kipps CM, Hodges JR, Clark L, Bekinschtein T, Roca M, Calcagno ML, Manes F (2007) The relationship between affective decision-making and theory of mind in the frontal variant of fronto-temporal dementia. Neuropsychologia 45(2):342–349CrossRefPubMed

Zajac J, Maclean HE (1998) Kennedy’s disease: clinical aspects. Genetic instabilities and hereditary neurological diseases. Academic Press, New York, pp 87–100

Weber M, Eisen A (1999) Assessment of upper and lower motor neurons in Kennedy’s disease: implications for corticomotoneuronal PSTH studies. Muscle Nerve 22(3):299–306. doi:10.1002/(SICI)1097-4598(199903)22:3<299:AID-MUS2>3.0.CO;2-D CrossRefPubMed

Grunseich C, Rinaldi C, Fischbeck K (2014) Spinal and bulbar muscular atrophy: pathogenesis and clinical management. Oral Dis 20(1):6–9PubMedCentralCrossRefPubMed

10.

Finsterer J (2009) Bulbar and spinal muscular atrophy (Kennedy’s disease): a review. Eur J Neurol 16(5):556–561CrossRefPubMed

11.

Greenland K, Zajac J (2004) Kennedy’s disease: pathogenesis and clinical approaches. Intern Med J 34(5):279–286CrossRefPubMed

12.

Adachi H, Katsuno M, Minamiyama M, Waza M, Sang C, Nakagomi Y, Kobayashi Y, Tanaka F, Doyu M, Inukai A (2005) Widespread nuclear and cytoplasmic accumulation of mutant androgen receptor in SBMA patients. Brain 128(3):659–670CrossRefPubMed

13.

Karitzky J, Block W, Mellies JK, Träber F, Sperfeld A, Schild HH, Haller P, Ludolph AC (1999) Proton magnetic resonance spectroscopy in Kennedy syndrome. Arch Neurol 56(12):1465–1471CrossRefPubMed

14.

Mader I, Karitzky J, Klose U, Seeger U, Sperfeld A, Naegele T, Schick F, Ludolph A, Grodd W (2002) Proton MRS in Kennedy disease: absolute metabolite and macromolecular concentrations. J Magn Reson Imaging 16(2):160–167CrossRefPubMed

15.

Pachatz C, Terracciano C, Desiato M, Orlacchio A, Mori F, Rocchi C, Bernardi G, Massa R (2007) Upper motor neuron involvement in X-linked recessive bulbospinal muscular atrophy. Clin Neurophysiol 118(2):262–268CrossRefPubMed

16.

Lai T-H, Soong B-W, Chen J-T, Chen Y-Y, Lai K-L, Wu Z-A, Liao K-K (2007) Multimodal evoked potentials of Kennedy’s disease. Can J Neurol Sci 34(3):328–332CrossRefPubMed

17.

Kassubek J, Juengling FD, Sperfeld A-D (2007) Widespread white matter changes in Kennedy disease: a voxel based morphometry study. J Neurol Neurosurg Psychiatry 78(11):1209–1212PubMedCentralCrossRefPubMed

18.

Unrath A, Müller HP, Riecker A, Ludolph AC, Sperfeld AD, Kassubek J (2010) Whole brain-based analysis of regional white matter tract alterations in rare motor neuron diseases by diffusion tensor imaging. Hum Brain Mapp 31(11):1727–1740PubMed

19.

Pieper C, Konrad C, Sommer J, Teismann I, Schiffbauer H (2013) Structural changes of central white matter tracts in Kennedy’s disease–a diffusion tensor imaging and voxel-based morphometry study. Acta Neurol Scand 127(5):323–328CrossRefPubMed

20.

Lai T-H, Liu R-S, Yang B-H, Wang P-S, Lin K-P, Lee Y-C, Soong B-W (2013) Cerebral involvement in spinal and bulbar muscular atrophy (Kennedy’s disease): a pilot study of PET. J Neurol Sci 335(1):139–144CrossRefPubMed

21.

Sperfeld AD, Karitzky J, Brummer D, Schreiber H, Häussler J, Ludolph AC, Hanemann CO (2002) X-linked bulbospinal neuronopathy: Kennedy disease. Arch Neurol 59(12):1921–1926CrossRefPubMed

22.

Kessler H, Prudlo J, Kraft S, Supprian T (2005) Dementia of frontal lobe type in Kennedy’s disease. Amyotroph Lateral Scler 6(4):250–253CrossRef

23.

Mirowska-Guzel D, Seniow J, Sułek A, Leśniak M, Członkowska A (2009) Are cognitive and behavioural deficits a part of the clinical picture in Kennedy’s disease? A case study. Neurocase 15(4):332–337CrossRefPubMed

24.

Shaw P, Thagesen H, Tomkins J, Slade J, Usher P, Jackson A, Curtis A, Bushby K, Ince P (1998) Kennedy’s disease: unusual molecular pathologic and clinical features. Neurology 51(1):252–255CrossRefPubMed

25.

Guidetti D, Vescovini E, Motti L, Ghidoni E, Gemignani F, Marbini A, Patrosso M, Ferlini A, Solime F (1996) X-linked bulbar and spinal muscular atrophy, or Kennedy disease: clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family. J Neurol Sci 135(2):140–148CrossRefPubMed

26.

Soukup GR, Sperfeld A-D, Uttner I, Karitzky J, Ludolph AC, Kassubek J, Schreiber H (2009) Frontotemporal cognitive function in X-linked spinal and bulbar muscular atrophy (SBMA): a controlled neuropsychological study of 20 patients. J Neurol 256(11):1869–1875CrossRefPubMed

27.

Phukan J, Pender NP, Hardiman O (2007) Cognitive impairment in amyotrophic lateral sclerosis. Lancet Neurol 6(11):994–1003. doi:10.1016/s1474-4422(07)70265-x CrossRefPubMed

28.

Premack D, Woodruff G (1978) Does the chimpanzee have a theory of mind? Behav Brain Sci 1(04):515–526CrossRef

29.

Torralva T, Roca M, Gleichgerrcht E, Bekinschtein T, Manes F (2009) A neuropsychological battery to detect specific executive and social cognitive impairments in early frontotemporal dementia. Brain 132(5):1299–1309CrossRefPubMed

30.

Adenzato M, Cavallo M, Enrici I (2010) Theory of mind ability in the behavioural variant of frontotemporal dementia: an analysis of the neural, cognitive, and social levels. Neuropsychologia 48(1):2–12CrossRefPubMed

31.

Gregory C, Lough S, Stone V, Erzinclioglu S, Martin L, Baron-Cohen S, Hodges JR (2002) Theory of mind in patients with frontal variant frontotemporal dementia and Alzheimer’s disease: theoretical and practical implications. Brain 125(Pt 4):752–764CrossRefPubMed

32.

Muller F, Simion A, Reviriego E, Galera C, Mazaux J-M, Barat M, Joseph P-A (2010) Exploring theory of mind after severe traumatic brain injury. Cortex 46(9):1088–1099CrossRefPubMed

33.

McDonald S, Gowland A, Randall R, Fisher A, Osborne-Crowley K, Honan C (2014) Cognitive factors underpinning poor expressive communication skills after traumatic brain injury: Theory of mind or executive function? Neuropsychology. doi:10.1037/neu0000089

34.

Cavallo M, Adenzato M, Macpherson SE, Karwig G, Enrici I, Abrahams S (2011) Evidence of social understanding impairment in patients with amyotrophic lateral sclerosis. PLoS One 6(10):e25948. doi:10.1371/journal.pone.0025948 PubMedCentralCrossRefPubMed

35.

Girardi A, Macpherson SE, Abrahams S (2011) Deficits in emotional and social cognition in amyotrophic lateral sclerosis. Neuropsychology 25(1):53–65. doi:10.1037/a0020357 CrossRefPubMed

36.

Meier SL, Charleston AJ, Tippett LJ (2010) Cognitive and behavioural deficits associated with the orbitomedial prefrontal cortex in amyotrophic lateral sclerosis. Brain 133(11):3444–3457. doi:10.1093/brain/awq254 CrossRefPubMed

37.

Decety J (2011) The neuroevolution of empathy. Ann N Y Acad Sci 1231(1):35–45CrossRefPubMed

38.

Zaki J, Ochsner KN (2012) The neuroscience of empathy: progress, pitfalls and promise. Nat Neurosci 15(5):675–680CrossRefPubMed

39.

Baron-Cohen S, Richler J, Bisarya D, Gurunathan N, Wheelwright S (2003) The systemizing quotient: an investigation of adults with Asperger syndrome or high–functioning autism, and normal sex differences. Phil Trans R Soc B 358(1430):361–374PubMedCentralCrossRefPubMed

40.

Vreeke G, Van der Mark I (2003) Empathy, an integrative model. New Ideas Psychol 21(3):177–207CrossRef

41.

van Honk J, Schutter DJ, Bos PA, Kruijt AW, Lentjes EG, Baron-Cohen S (2011) Testosterone administration impairs cognitive empathy in women depending on second-to-fourth digit ratio. Proc Natl Acad Sci USA 108(8):3448–3452. doi:10.1073/pnas.1011891108 PubMedCentralCrossRefPubMed

42.

Kret ME, De Dreu CK (2013) Oxytocin-motivated ally selection is moderated by fetal testosterone exposure and empathic concern. Front Neurosci 7:1. doi:10.3389/fnins.2013.00001 PubMedCentralCrossRefPubMed

43.

Chapman E, Baron-Cohen S, Auyeung B, Knickmeyer R, Taylor K, Hackett G (2006) Fetal testosterone and empathy: evidence from the empathy quotient (EQ) and the “reading the mind in the eyes” test. Soc Neurosci 1(2):135–148CrossRefPubMed

44.

Kaufmann P, Levy G, Thompson J, Delbene M, Battista V, Gordon P, Rowland L, Levin B, Mitsumoto H (2005) The ALSFRSr predicts survival time in an ALS clinic population. Neurology 64(1):38–43CrossRefPubMed

45.

Spinnler H, Tognoni G (1987) Standardizzazione e Taratura Italiana di Test Neuropsicologici, ltal. J Neurol Sci 8(Suppl al no 6):1–120

46.

Novelli G, Papagno C, Capitani E, Laiacona M (1986) Tre test clinici di memoria verbale a lungo termine: taratura su soggetti normali. Arch Psicol Neurol Psichiatr 47:278–296

47.

Benton AL (1968) Differential behavioral effects in frontal lobe disease. Neuropsychologia 6(1):53–60CrossRef

48.

Reitan RM (1958) Validity of the Trail Making Test as an indicator of organic brain damage. Percept Mot Skills 8(3):271–276CrossRef

49.

Stone VE, Baron-Cohen S, Knight RT (1998) Frontal lobe contributions to theory of mind. J Cogn Neurosci 10(5):640–656CrossRefPubMed

50.

Baron-Cohen S, Ring HA, Wheelwright S, Bullmore ET, Brammer MJ, Simmons A, Williams SC (1999) Social intelligence in the normal and autistic brain: an fMRI study. Eur J Neurosci 11(6):1891–1898CrossRefPubMed

51.

Baron-Cohen S, Wheelwright S, Hill J, Raste Y, Plumb I (2001) The “Reading the Mind in the Eyes” test revised version: A study with normal adults, and adults with Asperger syndrome or high-functioning autism. J Child Psychol Psychiatry 42(2):241–251CrossRefPubMed

52.

Kitchen CM (2009) Nonparametric vs parametric tests of location in biomedical research. Am J Ophthalmol 147(4):571–572. doi:10.1016/j.ajo.2008.06.031 PubMedCentralCrossRefPubMed

53.

Siegel S, Castellan NJ Jr (1988) Nonparametric statistics for the behavioral sciences, 2nd edn. McGraw-Hill, London

54.

Rothman KJ (1990) No adjustments are needed for multiple comparisons. Epidemiology 1(1):43–46CrossRefPubMed

55.

Overgaauw S, van Duijvenvoorde AC, Moor BG, Crone EA (2014) A longitudinal analysis of neural regions involved in reading the mind in the eyes. Soc Cogn Affect Neurosci. doi:10.1093/scan/nsu095 PubMed

56.

Adams RB Jr, Rule NO, Franklin RG Jr, Wang E, Stevenson MT, Yoshikawa S, Nomura M, Sato W, Kveraga K, Ambady N (2010) Cross-cultural reading the mind in the eyes: an fMRI investigation. J Cogn Neurosci 22(1):97–108. doi:10.1162/jocn.2009.21187 CrossRefPubMed

57.

Berthoz S, Armony JL, Blair RJ, Dolan RJ (2002) An fMRI study of intentional and unintentional (embarrassing) violations of social norms. Brain 125(Pt 8):1696–1708CrossRefPubMed

58.

Palmieri A, Mento G, Calvo V, Querin G, D’Ascenzo C, Volpato C, Kleinbub JR, Bisiacchi PS, Soraru G (2014) Female gender doubles executive dysfunction risk in ALS: a case-control study in 165 patients. J Neurol Neurosurg Psychiatry. doi:10.1136/jnnp-2014-307654 PubMed

59.

Kleinbub J, Messina I, Bordin D, Voci A, Calvo V, Sambin M, Palmieri A (2012) Corrigendum to “synchronization of skin conductance levels in therapeutic dyads” [Int. J. Psychophysiol. 85 (3) 383]. Int J Psychophysiol 86(3):299CrossRef

60.

Messina I, Palmieri A, Sambin M, Kleinbub JR, Voci A, Calvo V (2013) Somatic underpinnings of perceived empathy: The importance of psychotherapy training. Psychother Res 23(2):169–177CrossRefPubMed

61.

Marci C, Orr S (2006) The effect of emotional distance on psychophysiological concordance and perceived empathy between patient and interviewer. Appl Psychophysiol Biofeedback 31(2):115–128CrossRefPubMed

Titel: Theory of mind, empathy and neuropsychological functioning in X-linked Spinal and Bulbar Muscular Atrophy: a controlled study of 20 patients
verfasst von: Elisa Di Rosa
Gianni Sorarù
Johann Roland Kleinbub
Vincenzo Calvo
Antonino Vallesi
Giorgia Querin
Sonia Marcato
Irene Grasso
Arianna Palmieri
Publikationsdatum: 01.02.2015
Verlag: Springer Berlin Heidelberg
Erschienen in: Journal of Neurology / Ausgabe 2/2015
Print ISSN: 0340-5354
Elektronische ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-014-7567-5

Leitlinien kompakt für die Neurologie

Mit medbee Pocketcards sicher entscheiden.

^{Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag}

Kostenlos registrieren

Neu im Fachgebiet Neurologie

Niedriger diastolischer Blutdruck erhöht Risiko für schwere kardiovaskuläre Komplikationen

25.04.2024 Hypotonie Nachrichten

Wenn unter einer medikamentösen Hochdrucktherapie der diastolische Blutdruck in den Keller geht, steigt das Risiko für schwere kardiovaskuläre Ereignisse: Darauf deutet eine Sekundäranalyse der SPRINT-Studie hin.

Frühe Alzheimertherapie lohnt sich

25.04.2024 AAN-Jahrestagung 2024 Nachrichten

Ist die Tau-Last noch gering, scheint der Vorteil von Lecanemab besonders groß zu sein. Und beginnen Erkrankte verzögert mit der Behandlung, erreichen sie nicht mehr die kognitive Leistung wie bei einem früheren Start. Darauf deuten neue Analysen der Phase-3-Studie Clarity AD.

Viel Bewegung in der Parkinsonforschung

25.04.2024 Parkinson-Krankheit Nachrichten

Neue arznei- und zellbasierte Ansätze, Frühdiagnose mit Bewegungssensoren, Rückenmarkstimulation gegen Gehblockaden – in der Parkinsonforschung tut sich einiges. Auf dem Deutschen Parkinsonkongress ging es auch viel um technische Innovationen.

Demenzkranke durch Antipsychotika vielfach gefährdet

23.04.2024 Demenz Nachrichten

Wenn Demenzkranke aufgrund von Symptomen wie Agitation oder Aggressivität mit Antipsychotika behandelt werden, sind damit offenbar noch mehr Risiken verbunden als bislang angenommen.

Update Neurologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 2/2015

The utility of polysomnography for the diagnosis of NREM parasomnias: an observational study over 4 years of clinical practice

Clinical phenotypes and radiological findings in frontotemporal dementia related to TARDBP mutations

The cholinergic basal forebrain in Lewy body dementia and Alzheimer’s disease

Presumed tuberculous retrobulbar optic neuritis: a diagnosis challenge

Overview of neurosarcoidosis: recent advances