Congenital muscular dystrophies with cognitive impairment

A population study

S. Messina, C. Bruno, I. Moroni, E. Pegoraro, A. D'Amico, R. Biancheri, A. Berardinelli, P. Boffi, D. Cassandrini, L. Farina, C. Minetti, M. Moggio, T. Mongini, E. Mottarelli, M. Pane, C. Pantaleoni, A. Pichiecchio, A. Pini, E. Ricci, S. Saredi & 10 others M. Sframeli, G. Tortorella, A. Toscano, C. P. Trevisan, C. Uggetti, G. Vasco, G. P. Comi, F. M. Santorelli, E. Bertini, E. Mercuri

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

Background: Cognitive impairment has been reported in a significant proportion of patients with congenital muscular dystrophies (CMD), generally associated with brain changes. Objectives: The aim of this study was to establish 1) the overall prevalence of CMD and cognitive impairment in the Italian population; 2) the frequency of individual genetically defined forms; and 3) the presence of distinct phenotypes not associated with mutations in the known genes. Methods: We included all patients with CMD and cognitive impairment followed in all the Italian tertiary neuromuscular centers. Clinical, brain MRI, and morphologic data were collected. Genetic screening of the known genes was performed according to clinical and muscle biopsy findings. Results: Ninety-two of the 160 (58%) patients with CMD followed in our centers had cognitive impairment. α-Dystroglycan (α-DG) reduction on muscle biopsy was found in 73/92 (79%), with 42/73 carrying mutations in the known genes. Another 6/92 (7%) showed a laminin α2 deficiency on muscle biopsy and 5 of the 6 carried mutations in LAMA2. The remaining 13/92 (14%) patients had normal α-DG and laminin α2 expression on muscle. Conclusions: This is the first population study establishing the prevalence of CMD and cognitive impairment and providing a classification on the basis of clinical, MRI, and genetic findings. We also showed that cognitive impairment was not always associated with α-DG or laminin α2 reduction or with structural brain changes.

Original languageEnglish
Pages (from-to)898-903
Number of pages6
JournalNeurology
Volume75
Issue number10
DOIs
Publication statusPublished - Sep 7 2010

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Muscular Dystrophies
Laminin
Population
Muscles
Biopsy
Mutation
Brain
Dystroglycans
Genes
Genetic Testing
Cognitive Dysfunction
Cross-Sectional Studies
Phenotype

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Congenital muscular dystrophies with cognitive impairment : A population study. / Messina, S.; Bruno, C.; Moroni, I.; Pegoraro, E.; D'Amico, A.; Biancheri, R.; Berardinelli, A.; Boffi, P.; Cassandrini, D.; Farina, L.; Minetti, C.; Moggio, M.; Mongini, T.; Mottarelli, E.; Pane, M.; Pantaleoni, C.; Pichiecchio, A.; Pini, A.; Ricci, E.; Saredi, S.; Sframeli, M.; Tortorella, G.; Toscano, A.; Trevisan, C. P.; Uggetti, C.; Vasco, G.; Comi, G. P.; Santorelli, F. M.; Bertini, E.; Mercuri, E.

In: Neurology, Vol. 75, No. 10, 07.09.2010, p. 898-903.

Research output: Contribution to journalArticle

Messina, S, Bruno, C, Moroni, I, Pegoraro, E, D'Amico, A, Biancheri, R, Berardinelli, A, Boffi, P, Cassandrini, D, Farina, L, Minetti, C, Moggio, M, Mongini, T, Mottarelli, E, Pane, M, Pantaleoni, C, Pichiecchio, A, Pini, A, Ricci, E, Saredi, S, Sframeli, M, Tortorella, G, Toscano, A, Trevisan, CP, Uggetti, C, Vasco, G, Comi, GP, Santorelli, FM, Bertini, E & Mercuri, E 2010, 'Congenital muscular dystrophies with cognitive impairment: A population study', Neurology, vol. 75, no. 10, pp. 898-903. https://doi.org/10.1212/WNL.0b013e3181f11dd5
Messina, S. ; Bruno, C. ; Moroni, I. ; Pegoraro, E. ; D'Amico, A. ; Biancheri, R. ; Berardinelli, A. ; Boffi, P. ; Cassandrini, D. ; Farina, L. ; Minetti, C. ; Moggio, M. ; Mongini, T. ; Mottarelli, E. ; Pane, M. ; Pantaleoni, C. ; Pichiecchio, A. ; Pini, A. ; Ricci, E. ; Saredi, S. ; Sframeli, M. ; Tortorella, G. ; Toscano, A. ; Trevisan, C. P. ; Uggetti, C. ; Vasco, G. ; Comi, G. P. ; Santorelli, F. M. ; Bertini, E. ; Mercuri, E. / Congenital muscular dystrophies with cognitive impairment : A population study. In: Neurology. 2010 ; Vol. 75, No. 10. pp. 898-903.
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abstract = "Background: Cognitive impairment has been reported in a significant proportion of patients with congenital muscular dystrophies (CMD), generally associated with brain changes. Objectives: The aim of this study was to establish 1) the overall prevalence of CMD and cognitive impairment in the Italian population; 2) the frequency of individual genetically defined forms; and 3) the presence of distinct phenotypes not associated with mutations in the known genes. Methods: We included all patients with CMD and cognitive impairment followed in all the Italian tertiary neuromuscular centers. Clinical, brain MRI, and morphologic data were collected. Genetic screening of the known genes was performed according to clinical and muscle biopsy findings. Results: Ninety-two of the 160 (58{\%}) patients with CMD followed in our centers had cognitive impairment. α-Dystroglycan (α-DG) reduction on muscle biopsy was found in 73/92 (79{\%}), with 42/73 carrying mutations in the known genes. Another 6/92 (7{\%}) showed a laminin α2 deficiency on muscle biopsy and 5 of the 6 carried mutations in LAMA2. The remaining 13/92 (14{\%}) patients had normal α-DG and laminin α2 expression on muscle. Conclusions: This is the first population study establishing the prevalence of CMD and cognitive impairment and providing a classification on the basis of clinical, MRI, and genetic findings. We also showed that cognitive impairment was not always associated with α-DG or laminin α2 reduction or with structural brain changes.",
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T1 - Congenital muscular dystrophies with cognitive impairment

T2 - A population study

AU - Messina, S.

AU - Bruno, C.

AU - Moroni, I.

AU - Pegoraro, E.

AU - D'Amico, A.

AU - Biancheri, R.

AU - Berardinelli, A.

AU - Boffi, P.

AU - Cassandrini, D.

AU - Farina, L.

AU - Minetti, C.

AU - Moggio, M.

AU - Mongini, T.

AU - Mottarelli, E.

AU - Pane, M.

AU - Pantaleoni, C.

AU - Pichiecchio, A.

AU - Pini, A.

AU - Ricci, E.

AU - Saredi, S.

AU - Sframeli, M.

AU - Tortorella, G.

AU - Toscano, A.

AU - Trevisan, C. P.

AU - Uggetti, C.

AU - Vasco, G.

AU - Comi, G. P.

AU - Santorelli, F. M.

AU - Bertini, E.

AU - Mercuri, E.

PY - 2010/9/7

Y1 - 2010/9/7

N2 - Background: Cognitive impairment has been reported in a significant proportion of patients with congenital muscular dystrophies (CMD), generally associated with brain changes. Objectives: The aim of this study was to establish 1) the overall prevalence of CMD and cognitive impairment in the Italian population; 2) the frequency of individual genetically defined forms; and 3) the presence of distinct phenotypes not associated with mutations in the known genes. Methods: We included all patients with CMD and cognitive impairment followed in all the Italian tertiary neuromuscular centers. Clinical, brain MRI, and morphologic data were collected. Genetic screening of the known genes was performed according to clinical and muscle biopsy findings. Results: Ninety-two of the 160 (58%) patients with CMD followed in our centers had cognitive impairment. α-Dystroglycan (α-DG) reduction on muscle biopsy was found in 73/92 (79%), with 42/73 carrying mutations in the known genes. Another 6/92 (7%) showed a laminin α2 deficiency on muscle biopsy and 5 of the 6 carried mutations in LAMA2. The remaining 13/92 (14%) patients had normal α-DG and laminin α2 expression on muscle. Conclusions: This is the first population study establishing the prevalence of CMD and cognitive impairment and providing a classification on the basis of clinical, MRI, and genetic findings. We also showed that cognitive impairment was not always associated with α-DG or laminin α2 reduction or with structural brain changes.

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