TY - JOUR
T1 - Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy
AU - Galimberti, V.
AU - Tironi, R.
AU - Lerario, A.
AU - Scali, M.
AU - Del Bo, R.
AU - Rodolico, C.
AU - Brizzi, T.
AU - Gibertini, S.
AU - Maggi, L.
AU - Mora, M.
AU - Toscano, A.
AU - Comi, G. P.
AU - Sciacco, M.
AU - Moggio, M.
AU - Peverelli, L.
PY - 2019/1/1
Y1 - 2019/1/1
N2 - Background and purpose: The aim was to assess the value of insoluble PABPN1 muscle fibre nuclei accumulation in the diagnosis of atypical cases of oculopharyngeal muscular dystrophy (OPMD). Methods: Muscle biopsies from a selected cohort of 423 adult patients from several Italian neuromuscular centres were analysed by immunofluorescence: 30 muscle biopsies of genetically proven OPMD, 30 biopsies from patients not affected by neuromuscular disorders, 220 from genetically undiagnosed patients presenting ptosis or swallowing disturbances, progressive lower proximal weakness and/or isolated rimmed vacuoles at muscle biopsy and 143 muscle biopsies of patients affected by other neuromuscular diseases. Results: The detection of insoluble nuclear PABPN1 accumulation is rapid, sensitive (100%) and specific (96%). The revision of our cohort allowed us to discover 23 new OPMD cases out of 220 patients affected with nonspecific muscle diseases. Conclusions: Oculopharyngeal muscular dystrophy is often misdiagnosed leading to diagnosis delay, causing waste of time and resources. A great number of these cases present symptoms and histological findings frequently overlapping with other muscle diseases, i.e. inclusion body myositis and progressive external ophthalmoplegia. PABPN1 nuclear accumulation is a reliable method for diagnostic purposes and it is safe and useful in helping pathologists and clinicians to direct genetic analysis in the case of suspected OPMD, even when clinical and histological clues are deceptive.
AB - Background and purpose: The aim was to assess the value of insoluble PABPN1 muscle fibre nuclei accumulation in the diagnosis of atypical cases of oculopharyngeal muscular dystrophy (OPMD). Methods: Muscle biopsies from a selected cohort of 423 adult patients from several Italian neuromuscular centres were analysed by immunofluorescence: 30 muscle biopsies of genetically proven OPMD, 30 biopsies from patients not affected by neuromuscular disorders, 220 from genetically undiagnosed patients presenting ptosis or swallowing disturbances, progressive lower proximal weakness and/or isolated rimmed vacuoles at muscle biopsy and 143 muscle biopsies of patients affected by other neuromuscular diseases. Results: The detection of insoluble nuclear PABPN1 accumulation is rapid, sensitive (100%) and specific (96%). The revision of our cohort allowed us to discover 23 new OPMD cases out of 220 patients affected with nonspecific muscle diseases. Conclusions: Oculopharyngeal muscular dystrophy is often misdiagnosed leading to diagnosis delay, causing waste of time and resources. A great number of these cases present symptoms and histological findings frequently overlapping with other muscle diseases, i.e. inclusion body myositis and progressive external ophthalmoplegia. PABPN1 nuclear accumulation is a reliable method for diagnostic purposes and it is safe and useful in helping pathologists and clinicians to direct genetic analysis in the case of suspected OPMD, even when clinical and histological clues are deceptive.
KW - oculopharyngeal musclular dystrophy
KW - PABPN1 accumulations
KW - PABPN1 immunofluorescence
KW - rimmed vacuoles
KW - tubulofilamentous intranuclear inclusions
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U2 - 10.1111/ene.14131
DO - 10.1111/ene.14131
M3 - Article
C2 - 31769567
AN - SCOPUS:85076765429
JO - European Journal of Neurology
JF - European Journal of Neurology
SN - 1351-5101
ER -