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From the Neurometabolic Unit and Center for the Diagnosis Prevention and Therapy of Neuro-handicap (Drs. Dotti, De Stefano, Battisti, Sicurelli, and Federico), and the Department of Medical Genetics (Drs. Orrico, Galli, and Sorrentino), University of Siena, Italy; Division of Neurology (Dr. Severi), Arezzo General Hospital, Italy; and the Department of Chemical Pathology (C.W. Lam), Prince of Wales Hospital, The Chinese University of Hong Kong, People’s Republic of China.
Address correspondence and reprint requests to Dr. Maria Teresa Dotti, Neurometabolic Unit, Institute of Neurological Sciences, University of Siena, Viale Bracci 2,53100 Siena, Italy; e-mail: dotti{at}unisi.it
Objective: To characterize the clinical features of a new type of X-linked mental retardation associated with MECP2 mutation in the index family.
Background: MECP2 mutations, originally described in a high percentage of patients with classic Rett syndrome, were considered lethal in men. The authors recently described a novel A140V MECP2 missense mutation in an Italian family with X-linked semidominant mental retardation.
Methods: The neurologic features of six symptomatic relatives (two women and four men) carrying the mutation were compiled. Laboratory investigations included EEG, EMG, conduction velocity (CV) of peripheral nerves, brain MRI, and 1H-MR spectroscopy.
Results: Mental retardation and signs of neurologic impairment were present in all the affected members, but more pronounced in men. Neurologic features included slowly progressive spastic paraparesis/pyramidal signs (6/6), distal atrophy of the legs (6/6), ataxia (2/6), and postural tremor of the hands (3/6). Speech was preserved (6/6) but was dysarthric in the oldest brothers (2/6). Mild dysmorphic features were present in all cases.
Conclusion: The neurologic disorder associated with A140V MECP2 mutation is not necessarily lethal in men, but they are more severely affected than women of the same family.
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