Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I

A. Palmieri, R. Manara, L. Bello, G. Mento, L. Lazzarini, C. Borsato, L. Bortolussi, C. Angelini, E. Pegoraro

Research output: Contribution to journalArticle

18 Citations (Scopus)

Abstract

Limb-girdle muscular dystrophy 2I (LGMD2I) is a neuromuscular disorder with a heterogeneous phenotype. It is caused by mutations in the Fukutin Related Protein (FKRP) gene, which is ubiquitously expressed in human tissues. FKRP functions in CNS are largely unknown. To investigate possible cognitive impairment in LGMD2I and to describe brain MRI features. Ten LGMD2I patients (four males and six females, mean age 44 years, age range 19-69 years) were assessed with an extensive neuropsychological battery, psychopathological tests and neuromuscular specific quality-of-life questionnaire. Adults were compared with ten matched healthy controls. All patients underwent complete neurological examination, and nine underwent brain MRI scanning. Patients showed a fairly specific cognitive profile with mild impairment in executive functions and visuo-spatial planning without substantial impairment in global and logic IQ. MRI findings were heterogeneous: four patients showed non-specific white matter abnormalities; two patients showed moderate ventriculomegaly; three patients showed mild enlargement of subarachnoid spaces, without a specific pattern. Cerebellar atrophy was marked in one patient. Abnormal glycosylation of α-dystroglycan in LGMD2I may interfere with brain development and cognitive performances involving the frontal and posterior parietal regions, but does not result in specific brain MRI abnormalities.

Original languageEnglish
Pages (from-to)1312-1320
Number of pages9
JournalJournal of Neurology
Volume258
Issue number7
DOIs
Publication statusPublished - Jul 2011

Fingerprint

Limb-Girdle Muscular Dystrophies
Brain
Dystroglycans
Parietal Lobe
Subarachnoid Space
Executive Function
Neurologic Examination
Glycosylation
Atrophy
Proteins
Quality of Life
Phenotype
Mutation

Keywords

  • α-Dystroglycan
  • Brain MRI
  • Cognitive profile
  • FKRP
  • LGMD2I
  • Muscular dystrophy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Palmieri, A., Manara, R., Bello, L., Mento, G., Lazzarini, L., Borsato, C., ... Pegoraro, E. (2011). Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I. Journal of Neurology, 258(7), 1312-1320. https://doi.org/10.1007/s00415-011-5930-3

Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I. / Palmieri, A.; Manara, R.; Bello, L.; Mento, G.; Lazzarini, L.; Borsato, C.; Bortolussi, L.; Angelini, C.; Pegoraro, E.

In: Journal of Neurology, Vol. 258, No. 7, 07.2011, p. 1312-1320.

Research output: Contribution to journalArticle

Palmieri, A, Manara, R, Bello, L, Mento, G, Lazzarini, L, Borsato, C, Bortolussi, L, Angelini, C & Pegoraro, E 2011, 'Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I', Journal of Neurology, vol. 258, no. 7, pp. 1312-1320. https://doi.org/10.1007/s00415-011-5930-3
Palmieri A, Manara R, Bello L, Mento G, Lazzarini L, Borsato C et al. Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I. Journal of Neurology. 2011 Jul;258(7):1312-1320. https://doi.org/10.1007/s00415-011-5930-3
Palmieri, A. ; Manara, R. ; Bello, L. ; Mento, G. ; Lazzarini, L. ; Borsato, C. ; Bortolussi, L. ; Angelini, C. ; Pegoraro, E. / Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I. In: Journal of Neurology. 2011 ; Vol. 258, No. 7. pp. 1312-1320.
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