Literature DB >> 24763861

Amyotrophic lateral sclerosis in a patient with a family history of huntington disease: genetic counseling challenges.

Andrea L Smith1, James W Teener, Brian C Callaghan, Jack Harrington, Wendy R Uhlmann.   

Abstract

Amyotrophic lateral sclerosis (ALS) and Huntington disease (HD) are generally considered to be distinct and easily differentiated neurologic conditions. However, there are case reports of the co-occurrence of ALS with HD. We present a 57-year-old male with a clinical diagnosis of sporadic ALS in the context of a family history of HD. This case adds to the limited literature regarding individuals with a family history of HD who present with features of ALS. There were several genetic counseling challenges in counseling this patient including the diagnostic consideration of two fatal conditions, complex risk information, the personal and familial implications, and the patient's inability to communicate verbally or through writing due to disease progression. DNA banking effectively preserved the right of our patient and his wife not to learn his HD genetic status during a stressful time of disease progression while providing the option for family members to learn this information in the future if desired. We present lessons learned and considerations for other clinical genetics professionals who are presented with similar challenging issues.

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Year:  2014        PMID: 24763861     DOI: 10.1007/s10897-014-9715-6

Source DB:  PubMed          Journal:  J Genet Couns        ISSN: 1059-7700            Impact factor:   2.537


  48 in total

1.  Doing the right thing for one's children: deciding whether to take the genetic test for Huntington's disease as a moral dilemma.

Authors:  J A Smith; M Stephenson; C Jacobs; O Quarrell
Journal:  Clin Genet       Date:  2013-03-21       Impact factor: 4.438

2.  What counts as effective genetic counselling for presymptomatic testing in late-onset disorders? A study of the consultand's perspective.

Authors:  Lídia Guimarães; Jorge Sequeiros; Heather Skirton; Milena Paneque
Journal:  J Genet Couns       Date:  2013-01-07       Impact factor: 2.537

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5.  Huntington chorea presenting with motor neuron disease.

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Journal:  Arch Neurol       Date:  2011-05

6.  Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn superoxide dismutase.

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Journal:  Neurology       Date:  1997-01       Impact factor: 9.910

Review 7.  The incidence and prevalence of Huntington's disease: a systematic review and meta-analysis.

Authors:  Tamara Pringsheim; Katie Wiltshire; Lundy Day; Jonathan Dykeman; Thomas Steeves; Nathalie Jette
Journal:  Mov Disord       Date:  2012-06-12       Impact factor: 10.338

8.  [Familial amyotrophic lateral sclerosis associated with Huntington chorea with increased aspartate level in the cerebrospinal fluid].

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Journal:  Rev Neurol (Paris)       Date:  1992       Impact factor: 2.607

9.  Late onset of Huntington's disease.

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Journal:  J Neurol Neurosurg Psychiatry       Date:  1985-06       Impact factor: 10.154

10.  Reluctance to undergo predictive testing: the case of Huntington disease.

Authors:  K A Quaid; M Morris
Journal:  Am J Med Genet       Date:  1993-01-01
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  2 in total

Review 1.  Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review.

Authors:  Ashley Crook; Chris Jacobs; Toby Newton-John; Rosie O'Shea; Alison McEwen
Journal:  J Neurol       Date:  2021-03-01       Impact factor: 6.682

2.  Demographic and socioeconomic trends in DNA banking utilization in the USA.

Authors:  Joshua Prudent; Esthermarie Lopez; Donna Dorshorst; Hannah C Cox; Joann N Bodurtha
Journal:  J Community Genet       Date:  2021-06-29
  2 in total

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