Clinical and muscle magnetic resonance imaging study of an Italian family with autosomal dominant inclusion body myopathy not linked to known genetic loci

The objective was to report a clinical, pathological and muscle magnetic resonance (MR) study of an Italian family with an autosomal dominant inclusion body myopathy (AD-IBM). Eight subjects (age range 20-56 years; 5 females and 3 males) belonging to four generations were studied. Onset of disturban...

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Bibliographic Details
Published in:Neurological sciences 2005-12, Vol.26 (5), p.303-309
Main Authors: Rodolico, C, Toscano, A, Patitucci, A, Muglia, M, Gaeta, M, D'Arrigo, G, Migliorato, A, Messina, S, Quattrone, A, Messina, C, Vita, G
Format: Article
Language:English
Subjects:
Adult
Biopsy
Chromosome 14
Chromosome 17
Chromosome 2
Chromosomes - genetics
Edema
Electromyography
Family Health
Female
Filaments
Genes, Dominant
Genetic Linkage - genetics
Humans
Italy
Linkage analysis
Magnetic Resonance Imaging
Male
Middle Aged
Muscles
Myopathy
Myositis, Inclusion Body - genetics
Myositis, Inclusion Body - pathology
Myositis, Inclusion Body - physiopathology
Neurology
Neurosciences
Pedigree
Phenotype
Quadriceps muscle
Vacuoles
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Summary:The objective was to report a clinical, pathological and muscle magnetic resonance (MR) study of an Italian family with an autosomal dominant inclusion body myopathy (AD-IBM). Eight subjects (age range 20-56 years; 5 females and 3 males) belonging to four generations were studied. Onset of disturbances (distal weakness at lower limbs) ranged from 20 to 28 years. CK levels were increased to five times. Only in an early stage oedema of involved muscles has been demonstrated by muscle MR. Quadriceps femoris was characteristically spared; in the last phases a mild involvement of the vasti became evident with persistent sparing of the rectus femori. Rimmed vacuoles and hyperphosphorylated tau filaments were evident at muscle biopsy. Linkage analysis excluded the association of the disease to chromosome loci 14q11, 17p13.1, 2p13, 19p13. The study suggests that quadriceps sparing is a characteristic feature also of AD-IBM. This finding could represent a muscle-image hallmark helpful in diagnosis of autosomal dominant muscular disorders.
ISSN:1590-1874
1590-3478
DOI:10.1007/s10072-005-0502-x