Predictive genetic tests in neurodegenerative disorders

A methodological approach integrating psychological counseling for at-risk individuals and referring clinicians

C. Mariotti, A. Ferruta, C. Gellera, C. Nespolo, R. Fancellu, S. Genitrini, D. Di Bella, M. Panzeri, L. Nanetti, C. Tomasello, F. Taroni, G. Foresti, S. Astori

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

The identification of the molecular basis of numerous hereditary neurological disorders allowed the feasibility of predictive genetic tests for at-risk family members. In agreement with international guidelines, we tested a protocol for a predictive test to optimize cooperation among specialists, well-being of participants, and organization of clinical activities. The psychiatrist/psychologist did not meet the at-risk subjects, but cooperated with the team, integrating psychological support for participants and clinicians. We enrolled 60 subjects at risk for Huntington disease, and 32 at risk for spinocerebellar ataxias. Seventy-two subjects (78%) continued the visit program; 55 (60%) received the genetic result, and 38 subjects (41%) completed the program. Participation and outcome were similar in both groups. Mean psychological scores were all below significant levels; however, the need for psychological support was recognized for 5 mutation carriers and a non-carrier. Our data provide a methodological example of a simple and safe procedure for a predictive test, and indicate that the clinical conference represents a good setting to handle psychosocial impact associated with disclosure of genetic results in hereditary late-onset disorders.

Original languageEnglish
Pages (from-to)33-41
Number of pages9
JournalEuropean Neurology
Volume64
Issue number1
DOIs
Publication statusPublished - Jul 2010

Fingerprint

Neurodegenerative Diseases
Counseling
Psychology
Spinocerebellar Ataxias
Huntington Disease
Disclosure
Nervous System Diseases
Psychiatry
Organizations
Guidelines
Mutation

Keywords

  • Huntington disease
  • Neuropsychological tests
  • Neuropsychology counseling
  • Predictive genetic testing
  • Spinocerebellar ataxias
  • Triplet repeat disorders

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Medicine(all)

Cite this

Predictive genetic tests in neurodegenerative disorders : A methodological approach integrating psychological counseling for at-risk individuals and referring clinicians. / Mariotti, C.; Ferruta, A.; Gellera, C.; Nespolo, C.; Fancellu, R.; Genitrini, S.; Di Bella, D.; Panzeri, M.; Nanetti, L.; Tomasello, C.; Taroni, F.; Foresti, G.; Astori, S.

In: European Neurology, Vol. 64, No. 1, 07.2010, p. 33-41.

Research output: Contribution to journalArticle

Mariotti, C. ; Ferruta, A. ; Gellera, C. ; Nespolo, C. ; Fancellu, R. ; Genitrini, S. ; Di Bella, D. ; Panzeri, M. ; Nanetti, L. ; Tomasello, C. ; Taroni, F. ; Foresti, G. ; Astori, S. / Predictive genetic tests in neurodegenerative disorders : A methodological approach integrating psychological counseling for at-risk individuals and referring clinicians. In: European Neurology. 2010 ; Vol. 64, No. 1. pp. 33-41.
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