Amyotrophy and Huntingtonʼs Disease (HD)

Amyotrophic Lateral Sclerosis in a Patient with a Family History of Huntington Disease: Genetic Counseling Challenges

“…The prevalence of ALS, 4-8 per 100,000 and HD, 5-7 per 100,000 in the Western European population, give a predicted co-occurrence rate of 2-6 cases per billion in this population (Traynor et al 1999, Walker 2007. However, 11 case reports of individuals presenting with features of ALS or motor neuron disease with genetically confirmed HD have been described (Table 2), along with eight case reports of individuals with concurrent ALS and with a clinical diagnosis of HD made prior to the availability of HTT genetic testing (Panse 1942;Gasbarrini 1964;Frank and Vuia 1973;Myers et al 1985;Blin et al 1992;Rubio et al 1995). Tada et al (2012) hypothesize that a HTT gene mutation predisposes a small subset of individuals with HTT mutations to develop clinical and pathological features consistent with ALS (Tada et al 2012).…”

“…There have been case reports of individuals and families with features of both amyotrophic lateral sclerosis (ALS) and Huntington disease (HD), suggesting that there may be a rare presentation of ALS in individuals with HD (Rubio et al 1996, Kanai et al 2008, Papageorgiou et al 2006, Phukan et al 2010, Mandrioli et al 2010, Sadeghian et al 2011Tada et al 2012;Panse 1942;Gasbarrini 1964;Frank and Vuia 1973;Myers et al 1985;Blin et al 1992;Rubio et al 1995;Chettri et al 2013). These two conditions are typically considered to have little overlap in symptomology, though both conditions are fatal, typically adult-onset neurodegenerative conditions without effective treatment.…”