Abstract

Review Article

Facial-onset sensory-motor neuronopathy, a rare variant of Huntington’s disease or chance association?

William Camu*, Raul Juntas-Morales, Elisa De La Cruz, Florence Esselin, Nicolas Pageot and Guillaume Taieb

Published: 15 July, 2021 | Volume 5 - Issue 2 | Pages: 069-071

Objectives: To describe a patient with facial-onset sensory-motor neuronopathy (FOSMN) that later developed Huntington’s disease (HD).

Case report: A 62-year-old woman complained of progressive dysphagia 8 years before referral. At initial evaluation, there was excessive salivation, dysphagia, and sensory-motor trigeminal impairment. Denervation was noted on the upper limbs and the tongue. Blink reflexes were abolished. Genetic study of amyotrophic lateral sclerosis (ALS)-related genes was normal. She was diagnosed with FOSMN syndrome. Her clinical state progressively worsened with corneal anesthesia, severe denutrition, right arm and axial weakness. Seven years after referral, she was unable walk and developed generalized chorea. Abnormal huntingtin gene repeat expansion confirmed the diagnosis of HD. She died 16 years after onset of dysphagia.

Conclusion: Cases with both HD and ALS have already been reported but not FOSMN and HD, to our knowledge. Some FOSMN cases have been linked to ALS-related gene mutations and HD phenocopies have been associated with C9ORF72 repeat expansions. Recently, huntingtin repeat expansions were described in the ALS population. Although a chance association cannot be excluded, data from the literature are in favor of a pathogenic relationship between FOSMN and HD in this particular case. We suggest that huntingtin gene be more systematically studied in patients with FOSMN.

Read Full Article HTML DOI: 10.29328/journal.jnnd.1001053 Cite this Article Read Full Article PDF

Keywords:

Amyotrophic lateral sclerosis; Facial-onset sensory-motor neuronopathy; Huntington’s disease; Chorea

References

  1. Vucic S, Stein TD, Hedley-Whyte ET, Reddel SR, Tisch S, et al. FOSMN syndrome: novel insight into disease pathophysiology. Neurology 2012; 79: 73-79. PubMed: https://pubmed.ncbi.nlm.nih.gov/22722633/
  2. Vázquez-Costa JF, Pedrola Vidal L, Moreau-Le Lan S, Teresí-Copoví I, Frasquet M, et al. Facial onset sensory and motor neuronopathy: a motor neuron disease with an oligogenic origin? Amyotroph Lateral Scler Frontotemporal Degener. 2019; 20: 172-175. PubMed: https://pubmed.ncbi.nlm.nih.gov/30889971/
  3. Grudzińska M, Kierdaszuk B, Lipowska M, Rosiak E, Kostera-Pruszczyk A. Facial onset sensory and motor neuronopathy syndrome - a rare variant of motor neurone disease. Neurol Neurochir Pol. 2021; 55: 325-327. PubMed: https://pubmed.ncbi.nlm.nih.gov/33559874/
  4. Pinto WBVR, Naylor FGM, Chieia MAT, de Souza PVS, Oliveira ASB. New findings in facial-onset sensory and motor neuronopathy (FOSMN) syndrome. Rev Neurol (Paris). 2019; 175: 238-246. PubMed: https://pubmed.ncbi.nlm.nih.gov/30293881/
  5. Zhang Q, Cao B, Chen Y, Liang Y, Wei Q, et al. Facial Onset Motor and Sensory Neuronopathy Syndrome with a Novel TARDBP Mutation. Neurologist. 2019; 24: 22-25. PubMed: https://pubmed.ncbi.nlm.nih.gov/30586030/
  6. Shibuya K, Sawai S, Sugiyama A, Koide M, Nishiyama A, et al. Facial onset amyotrophic lateral sclerosis with K3E variant in the Cu/Zn superoxide dismutase gene. Amyotroph Lateral Scler Frontotemporal Degener. 2020; 22: 144-146.. PubMed: https://pubmed.ncbi.nlm.nih.gov/32729725/
  7. Tada M, Coon EA, Osmand AP, Kirby PA, Martin W, et al. Coexistence of Huntington's disease and amyotrophic lateral sclerosis: a clinicopathologic study. Acta Neuropathol. 2012; 124: 749-760. PubMed: https://pubmed.ncbi.nlm.nih.gov/22735976/
  8. Rubio A, Steinberg K, Figlewicz DA, MacDonald ME, Greenamyre T, et al. Coexistence of Huntington's disease and familial amyotrophic lateral sclerosis: case presentation. Acta Neuropathol. 1996; 92: 421-427. PubMed: https://pubmed.ncbi.nlm.nih.gov/8891076/
  9. Ohashi N, Nonami J, Kodaira M, Yoshida K, Sekijima Y. Taste disorder in facial onset sensory and motor neuronopathy: a case report. BMC Neurol. 2020; 20: 71. PubMed: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7049225/
  10. Alva-Diaz C, Alarcon-Ruiz CA, Pacheco-Barrios K, et al. C9orf72 Hexanucleotide Repeat in Huntington-Like Patients: Systematic Review and Meta-Analysis. Front Genet. 2020; 11: 551780. PubMed: https://pubmed.ncbi.nlm.nih.gov/33240313/
  11. Capiluppi E, Romano L, Rebora P, et al. Late-onset Huntington's disease with 40-42 CAG expansion. Neurol Sci. 2020; 4: 869-876. PubMed: https://pubmed.ncbi.nlm.nih.gov/31820322/
  12. Roos RA. Huntington's disease: a clinical review. Orphanet J Rare Dis. 2010; 5: 40. PubMed: https://pubmed.ncbi.nlm.nih.gov/21171977/
  13. Dewan R, Chia R, Ding J, Hickman RA, Stein TD, et al. Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. Neuron. 2021; 109: 448-460. PubMed: https://pubmed.ncbi.nlm.nih.gov/33242422/
  14. Toyoshima Y, Takahashi H. TDP-43 pathology in polyglutamine diseases: with reference to amyotrophic lateral sclerosis. Neuropathology. 2014; 34: 77-82. PubMed: https://pubmed.ncbi.nlm.nih.gov/23889603/
  15. Rossor AM, Jaunmuktane Z, Rossor MN, Hoti G, Reilly MM. TDP43 pathology in the brain, spinal cord, and dorsal root ganglia of a patient with FOSMN. Neurology. 2019; 92: e951–956. PubMed: https://pubmed.ncbi.nlm.nih.gov/30700593/

Similar Articles

Recently Viewed

Read More

Most Viewed

Read More

Help ?