共 50 条
Congenital muscular dystrophies with cognitive impairment A population study
被引:20
|作者:
Messina, S.
[1
,3
,4
]
Bruno, C.
[5
,6
]
Moroni, I.
[7
,8
,9
]
Pegoraro, E.
[10
]
D'Amico, A.
[11
]
Biancheri, R.
[5
,6
]
Berardinelli, A.
[12
]
Boffi, P.
[13
]
Cassandrini, D.
[5
,6
]
Farina, L.
[7
,8
,9
]
Minetti, C.
[5
,6
]
Moggio, M.
[14
]
Mongini, T.
[15
]
Mottarelli, E.
[7
,8
,9
]
Pane, M.
[1
]
Pantaleoni, C.
[7
,8
,9
]
Pichiecchio, A.
[12
]
Pini, A.
[16
]
Ricci, E.
[2
]
Saredi, S.
[7
,8
,9
]
Sframeli, M.
[3
,4
]
Tortorella, G.
Toscano, A.
[3
,4
]
Trevisan, C. P.
[10
]
Uggetti, C.
[12
]
Vasco, G.
[1
]
Comi, G. P.
[14
]
Santorelli, F. M.
[11
]
Bertini, E.
[11
]
Mercuri, E.
[1
]
机构:
[1] Catholic Univ, Dept Paediat Neurol, Rome, Italy
[2] Catholic Univ, Inst Neurol, Rome, Italy
[3] Univ Messina, Dept Neurosci Psychiat & Anaesthesiol, Messina, Italy
[4] Univ Messina, Dept Pediat, Unit Child Neuropsychiat, Messina, Italy
[5] G Gaslini Inst Children, Muscular & Neurodegenerat Dis Unit, Genoa, Italy
[6] G Gaslini Inst Children, Child Neurol & Psychiat Unit, Genoa, Italy
[7] Neurol Inst C Besta, Child Neurol Dept, Myopathol Unit, Milan, Italy
[8] Neurol Inst C Besta, Child Neurol Dept, Neuroimmunol Unit, Milan, Italy
[9] Neurol Inst C Besta, Child Neurol Dept, Neuroradiol Unit, Milan, Italy
[10] Univ Padua, Dept Neurosci, Padua, Italy
[11] Bambino Gesu Pediat Hosp, Dept Neurosci, Unit Neuromuscular Disorders, Rome, Italy
[12] Univ Pavia, IRCCS C Mondino Fdn, I-27100 Pavia, Italy
[13] Univ Turin, Dept Child Neuropsychiat, Turin, Italy
[14] Univ Milan, Dept Neurol Sci, Fdn IRCCS Osped Maggiore Policlin Mangiagaili & R, Milan, Italy
[15] Univ Turin, Neuromuscular Ctr, SG Battista Hosp, Turin, Italy
[16] Univ Bologna, Maggiore Hosp, Child Neurol & Psychiat Unit, Bologna, Italy
来源:
关键词:
ENMC SPONSORED WORKSHOP;
CEREBELLAR HYPOPLASIA;
ALPHA-DYSTROGLYCAN;
FOLLOW-UP;
MEROSIN;
EPILEPSY;
FORM;
MRI;
D O I:
10.1212/WNL.0b013e3181f11dd5
中图分类号:
R74 [神经病学与精神病学];
学科分类号:
摘要:
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. alpha-Dystroglycan (alpha-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 alpha 2 deficiency on muscle biopsy and 5 of the 6 carried mutations in LAMA2. The remaining 13/92 (14%) patients had normal alpha-DG and laminin alpha 2 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 alpha-DG or laminin alpha 2 reduction or with structural brain changes. Neurology (R) 2010; 75: 898-903
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页码:898 / 903
页数:6
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