Hereditary inclusion body myopathies

Current Opinion in Neurology

Volumn 11, Issue 5, 1998, Pages 453-459

  Tomé, Fernando M S ^a   Fardeau, Michel ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID PRECURSOR PROTEIN;

AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CELL INCLUSION; CELL VACUOLE; HUMAN; INCLUSION BODY MYOSITIS; MUSCLE BIOPSY; MUSCLE CELL; MYOPATHY; PATHOPHYSIOLOGY; PHENOTYPE; REVIEW; SARCOPLASM;

GENES, DOMINANT; GENES, RECESSIVE; HUMANS; MUSCULAR DISEASES; MYOSITIS, INCLUSION BODY;

EID: 0031783955     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-199810000-00007     Document Type: Review

References (52)

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2. Askanas VA, Serratrice G, Engel WK. Inclusion-body myositis and myopathies. Cambridge: Cambridge University Press; 1998. This is the first book only devoted to sporadic inclusion body myositis and hereditary IBMs and obligatory reading for those interested in these diseases.
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6. Askanas VA, Engel WK. Newest approaches to diagnosis and pathogenesis of sporadic inclusion-body myositis and hereditary inclusion-body myopathies, including molecular-pathologic similarities with Alzheimer's disease. In: Inclusion-body myositis and myopathies. Askanas VA, Serratrice G, Engel WK (editors). Cambridge: Cambridge University Press; 1998. pp. 3-78. This is an excellent chapter reporting extensively the original and painstaking work accomplished by the authors in recent years on this group of diseases.
7. Argov Z, Yarom R. 'Rimmed vacuole myopathy' sparing the quadriceps: a unique disorder in Iranian Jews. J Neurol Sci 1984; 64:33-43.
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9. Argov Z, Tiram E, Eisenberg I, Sadeh M, Seidman CE, Seidman JG, et al. Various types of hereditary inclusion body myopathies map to chromosome 9p1-q1. Ann Neurol 1997; 4:548-551. It is reported that many forms of autosomal recessive hereditary inclusion myopathy (two Afghani-Jewish families, one Iraqi-Jewish family and a non-Jewish family from India) map to chromosome 9p1-q1. However a French-Canadian family in which affected individuals had central nervous system involvement as well as hereditary inclusion body myopathy, did not map to this locus.
10. Argov Z, Mitrani-Rosembaum S. Hereditary inclusion-body myopathy with quadriceps sparing: epidemiology and genetics. In: Inclusion-body myositis and myopathies. Askanas VA, Serratrice G, Engel WK (editors). Cambridge: Cambridge University Press; 1998. pp. 200-210.
11. Sadeh M, Argov Z. Hereditary inclusion-body myopathy in Jews of Persian origin: clinical and laboratory data. In: Inclusion-body myositis and myopathies. Askanas VA, Serratrice G, Engel WK (editors). Cambridge: Cambridge University Press; 1998. pp. 191-199. This is a review of the combined experience of the authors with 49 patients from 31 different Jewish families of Persian origin.
12. Middleton LT, Christodoulou K, Askanas VA, Engel WK, McFerrin J, Kyriakides T, et al. Molecular genetics of autosomal-recessive hereditary inclusion body myopathy (AR-IBM) [abstract]. Ann Neurol 1997; 42:414.
13. Nonaka I, Sunohara N, Ishiura S, Satoyoshi E. Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. J Neurol Sci 1981; 51:141-155.
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15. Satoyoshi E, Sunhohara N, Nonaka I. Distal myopathy with rimmed vacuoles, inclusion-body myositis, and related disorders in Japan. In: Inclusion-body myositis and myopathies. Askanas VA, Serratrice G, Engel WK (editors). Cambridge: Cambridge University Press; 1998. pp. 244-251.
16. Ikeuchi T, Asaka T, Saito M, Tanaka H, Higuchi S, Tanaka K, et al. Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9. Ann Neurol 1997; 41:432-437. Study of seven families with DMRV using 10 microsatellite markers within the region of the hereditary IBM locus showed significantly high cumulative pair-wise LOD scores with three markers. The most likely location of the DMRV gene is in a 23.3-centimorgan interval defined by D9S319 and D9S276 on chromosome 9. The results raise the possibility that DMRV and hereditary IBM sparing the quadriceps are allelic diseases.
17. Sivakumar K, Dalakas MC. The spectrum of familial inclusion body myopathies in 13 families and a description of a quadriceps-sparing phenotype in non-Iranian Jews. Neurology 1996; 47:977-984.
18. Cole AJ, Kuzniecky R, Karpati G, Carpenter S, Andermann E, Andermann F. Familial myopathy with changes resembling inclusion body myositis and periventricular leucoencephalopathy. A new syndrome. Brain 1988; 111:1025-1037.
19. Leclerc A, Tomé FMS, Fardeau M. Ubiquitin and β-amyloid protein in inclusion body myositis (IBM), familial IBM-like disorder and oculopharyngeal muscular dystrophy: an immunocytochemical study. Neuromusc Disord 1993; 3:283-292.
20. Rose MR, Landon DN, Papadimitriou A, Morgan-Hughes JA. A rapidly progressive adolescent-onset oculopharyngeal somatic syndrome with rimmed vacuoles in two siblings. Ann Neurol 1997; 41:25-31. This is a detailed report of the clinical features and morphologic changes in muscle biopsies of two Greek siblings who developed a rapidly progressive and unusual oculopharyngeal somatic syndrome, at the ages of 11 and 14 years.
21. Neville HE, Baumbach LL, Ringel SP, Russo LS Jr, Sujansky E, Garcia CA. Familial inclusion body myositis: evidence for autosomal dominant inheritance. Neurology 1992; 42:897-902.
22. Alvarez RB, Simmons, Engel W, Askanas V. New autosomal-dominant inclusion-body myopathy (AD-IBM) with many congophilic muscle nuclei that contain paired-helical filaments (PHFs) composed of phosphorylated tau [abstract]. Neurology 1998; 50(Suppl 4):A204. This immunocytochemical study of muscle biopsies of three patients showed a vacuolar myopathy, lack of inflammation, abundant cytoplasmic PHFs containing epitopes of phosphorylated tau, congophilia, abnormal accumulations of β-APP epitopes and apolipoprotein E. This study indicates that, despite several pathologic phenotypic similarities, genetically different hereditary IBMs may express their own characteristic pathologic profile.
23. Darin N, Kyllerman M, Wahlström J, Martinsson T, Oldfors A. Autosomal dominant myopathy with congenital joint contractures, opthalmoplegia and rimmed vacuoles. Ann Neurol 1998; 44:242-248.
24. Darin N, Kyllerman M, Oldfors A, Wahlström J, Martinsson T. A new hereditary inclusion body myopathy (h-IBM) with congenital joint contractures, opthalmoplegia and autosomal dominant inheritance, maps to chromosome 17p (HGM locus IBM3). Muscle Nerve 1998; suppl 7:56.
25. Ahlberg G, von Tell D, Borg K, Ansved T, Edström L, Anvret M. Welander distal myopathy: linkage to chromosome 2p [abstracts XI International Congress Muscle Disease]. Muscle Nerve 1998 (in press).
26. Haravuori H, Makela-Bengs P, Udd B, Partanen J, Pulkkinen L, Somer H, Peltonen L. Assignment of the tibial muscular dystrophy locus to chromosome 2q31. Am J Hum Genet 1998; 62:620-626. Genetic studies on four Finnish tibisl muscular dystrophy families allowed to link the disease on chromosome 2q31 without any evidence of heterogeneity, and restricted the disease locus to an approximately 1-centimorgan region. This disease locus represents a novel locus for the distal myopathies and suggests the individuality of the TMD.
27. Satoyoshi E, Kinoshita M. Oculopharyngodistal myopathy. Arch Neurol 1977; 34:89-92.
28. Tomé FMS, Fardeau M. Oculopharyngeal muscular dystrophy. In: Myology, vol. 2, 2nd edn. Engel AG, Franzini-Armstrong C (editors). New York: McGraw-Hill Book Company; 1994. pp. 1223-1235.
29. Pellissier JF, Baeta-Machado A, Putzu G, Figarella-Branger D. Unusual pathologic forms of inclusion-body myositis and neuromuscular disorders with IBM-like changes. In: Inclusion-body myositis and myopathies. Askanas VA, Serratrice G, Engel WK (editors). Cambridge: Cambridge University Press; 1998. pp. 156-171.
30. Hentati F, Ben Hamida C, Belal S, Tomé F, Fardeau M, Ben Hamida M. Familial autosomal recessive inclusion-body myositis with leucoencephalopathy. In: Inclusion-body myositis and myopathies. Askanas VA, Serratrice G, Engel WK (editors). Cambridge: Cambridge University Press; 1998. pp. 211-220.
31. Askanas V, Engel WK, Yang CC, Alvarez RB, Lee VM, Wisniewski T. Light and electron microscopic immunolocalization of presenilin 1 in abnormal muscle fibers of patients with sporadic inclusion-body myositis and autosomal-recessive inclusion-body myopathy. Am J Pathol 1998; 152:889-695. Six antibodies against presenilin 1 were used to immunostain muscle biopsies of 12 patients with sporadic inclusion body myositis, five patients with autosomal recessive IBM, as well as normal and disease control individuals. Of the vacuolated muscle fibres of both sporadic inclusion body myositis and autosomal recessive IBM, 70-80% had inclusions that were strongly presenilin-1-immunoreactive, which by immunoelectron microscopy localized mainly to PHFs and filaments 6-to 10-nm in external diameter. None of the control biopsies had presenilin-1-positive inclusions characteristic of the sporadic inclusion body myositis and hereditary IBM abnormal muscle fibres. Mutations of presenilin 1 gene are responsible for early-onset familial Alzheimer's disease, and presenilin 1 is abnormally accumulated in sporadic and familial Alzheimer's disease brain. This study provided the first demonstration of presenilin 1 abnormality in non-neural tissue and in diseases other than Alzheimer's disease and suggested that the cytopathogenesis in Alzheimer's disease brain and sporadic inclusion body myositis and autosomal recessive IBM muscle may have similarities.
32. Yang CC, Alvarez RB, Engel WK, Heller SL, Askanas V. Nitric oxide-induced oxidative stress in autosomal recessive and dominant inclusion-body myopathies. Brain 1998; 121:1089-1097. Muscle biopsy from quadriceps-sparing autosomal recessive and autosomal dominant IBM patients studied with antibodies against the neuronal and inducible forms of nitric oxide synthase, and antibodies against nitrotyrosine, showed that approximately 75% of the vacuolated muscle fibres in all autosomal recessive and autosomal dominant IBM contained inclusions strongly immunoreactive with antibodies against neuronal and inducible nitric oxide synthase which, by immunoelectron microscopy, were colocalized to clusters of tubulofilaments. It is suggested that oxidative stress plays a role in the pathogenic cascade of hereditary IBMs.
33. McFerrin J, Engel WK, Askanas V. Cultured muscle fibers (CMFs) from Iranian Jewish patients with quadriceps-sparing autosomal-recessive chromosome 9p1-q1 linked inclusion-body myopathy (AR1-IBM) have increased accumulation of β-amyloid precursor protein (βAPP) and cannot become properly innervated [abstract]. Neurology 1998; 50(Suppl 4):A203-A204. Cultures from muscle biopsies of five Iranian Jewish patients with autosomal recessive hereditary IBM, linked to chromosome 9p1-q1, showed accumulation of β-APP epitopes and vacuolization 7-8 days after fusion. Cultured muscle fibres were cocultured with fetal rat spinal cord (with dorsal root ganglia attached). Most of cultured muscle fibres were not cross-striated and they were either not contracting or had very slow and irregular contractions. These results suggested that innervation was inhibited by the increased β-APP, and this mechanism could be responsible for muscle fibres in autosomal recessive hereditary IBM patients not becoming, or remaining, properly innervated or reinnervated (i.e. a 'myogenous-deinnervation'mechanism).
34. McFerrin J, Price SM, Baque S, Engel WK, Askanas V. Overexpression of β-amyloid precursor protein (βAPP) gene in cultured normal human muscle using adenovirus vector prevents formation of neuromuscular junctions (NMJs) and functional innervation: relevance to inclusion-body myositis (s-IBM) [abstract]. Neurology 1997; 48(Suppl 4):A332.
35. Moslemi AR, Lindberg C, Oldfors A. Analysis of multiple mitochondrial DNA deletions in inclusion body myositis. Hum Mut 1997; 10:381-386. Multiple mitochondrial DNA deletions in muscle from four patients with inclusion body myositis were sequenced for the first time. There was a marked predominance of deletion breakpoints in certain regions of mitochondrial DNA, similar to those described in other conditions with multiple deletions, such as autosomal dominant progressive external ophthalmoplegia and normal ageing, but different from those described in diseases caused by single deletions such as Kearns-Sayre syndrome and sporadic progressive external ophthalmoplegia. These findings indicate that common factors are involved in the development of multiple mitochondrial DNA deletions in inclusion body myositis autosomal dominant progressive external ophthalmoplegia and ageing.
36. Horvath R, Fu K, Johns T, Genge A, Karpati G, Shoubridge EA. Characterization of the mitochondrial DNA abnormalities in the skeletal muscle of patients with inclusion body myositis. J Neuropathol Exp Neurol 1998; 57:396-403. In-situ hybridization analysis with mitochondrial DNA probes revealed several different mitochondrial DNA abnormalities in cytochrome c oxidase negative muscle fibres, including large-scale mitochondrial DNA deletions and mitochondrial DNA depletion, but no evidence for nonspecific DNA binding. It is suggested that early molecular abnormalities in inclusion body myositis may simply accelerate the accumulation of mitochondrial DNA abnormalities that occurs with natural ageing.
37. Desnuelle C, Paquis V, Paul R, Engel WK, Saunières A, Alvarez RB, Askanas VA. Mitochondrial DNA analysis in muscle of patients with sporadic inclusion-body myositis and hereditary inclusion-body myopathy. In: Inclusion-body myositis and myopathies. Askanas VA, Serratrice G, Engel WK (editors). Cambridge: Cambridge University Press; 1998. pp. 318-328.
38. Garlepp MJ, Blechynden L, Tabarias H, Lawson C, van Bockxmeer F, Mastaglia FL. Genetic factors in sporadic inclusion-body myositis. In: Inclusion-body myositis and myopathies. Askanas VA, Serratrice G, Engel WK (editors). Cambridge: Cambridge University Press; 1998. pp. 176-188,
39. Koffman BM, Sivakumar K, Simonis T, Stroncek D, Dalakas MC. HLA allele distribution distinguishes sporadic inclusion body myositis from hereditary inclusion body myopathies. J Neuroimmunol 1998; 84:139-142. Human leukocyte antigen class II allele specific typing, using polymerase chain reaction sequence-specific primers for 71 alleles contained in the Drbeta1, Drbeta3-5 and Dqbeta 1 loci, was carried out in 45 patients, 30 with sporadic inclusion body myositis and 15 with hereditary IBM. In sporadic inclusion body myositis, there was a high frequency of Drbeta1, Drbeta 3 and Dqbeta 1 alleles, wherease no significatn association with alleles in the DR and DQ haplotypes was found in hereditary IBM patients. This suggests that sporadic inclusion body myositis is a distinct disorder with an immunogenetic background that differs from hereditary IBM.
40. Uyama E, Uchino M, Chateau D, Tomé FMS. Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy. Neuromusc Disord 1998; 8:119-125.
41. Yatabe K, Kawai M. Specific binding of Ulex europaeusagglutinin I lectin to sarcolemma of distal myopathy with rimmed vacuole formation. J Neurol 1997; 244:489-492 Ulex europaeus agglutinin I binding studied in 83 patients with various neuromuscular disorders showed binding in sarcolemma and intrasarcoplasmic membranous organelles other than mitochondria in only nine out of nine patients with DMRV, in one out of five of those with inclusion body myositis and in one out of 36 of those with inflammatory myopathies. These findings revealed the existence of fucosylated proteins or lipids in DMRV. The authors concluded that the biochemical identification of the fucosylated substance and further detailed study on subcellular localization of europaeus agglutinin I binding may yield important clues to the pathogenesis of DMRV.
42. Kumamoto T, Abe T, Nagao S, Ueyama H, Tsuda T. Immunohistochemical study of clathrin in distal myopathy with rimmed vacuoles. Acta Neuropathol (Berl) 1998; 95:571-575. Immunohistochemistry for clathrin was carried out in muscle biopsies from five patients with DMRV, five control individuals and 17 patients with other neuromuscular disorders. Quantitative analysis showed more reactivity for clathrin in DMRV patients than in control individuals and other diseased muscles. It was found particularly in atrophic fibres and type 2 fibres. Not all strongly clathrin-positive muscle fibres contained rimmed vacuoles, although most fibres with vacuoles were clathrin positive.
43. Tomé FMS, Leclerc A, Lopez N, Chateau D, Alvarez RB, Richardet JM, et al. Childhood-onset myopathy characterized by cytoplasmic and nuclear inclusions containing 16-18 nm tubulofilaments [abstract]. Neurology 1993; 43 (Suppl 2):A201-A202,
44. Sieb JP, VonOertzen J, Tolksdorf K, Dorfler P, Kappes-Horn K, Jerusalem F. Sporadic adult-onset distal myopathy with rimmed vacuoles, 15-18 nm tubulofilaments and extensive rod formation. J Neurol Sci 1997; 146:81-84.
45. Borg K, Åhlberg G, Anvret M, Edström L. Welander distal myopathy - an overview. Neuromusc Disord 1998; 8:115-118.
46. Borg K, Tomé FMS, Edstrom L. 'Inclusion body myositis-like' intranuclear filamentous inclusions in distal myopathy (Welander type). Acta Neuropathol (Berl) 1991; 82:102-106.
47. Åhlberg G, Borg K, Edstrom L, Anvret M. Welander distal myopathy is not linked to other defined distal myopathy gene loci. Neuromusc Disord 1997; 7:256-260. Linkage analysis in six families with microsatellite markers dispersed throughout the genome allowed 64% of the human genome to be excluded from the localization of the gene of this disease. The locus of Miyoshi myopathy on 2p12-p14 and that of the distal myopathy described by Laing et al. [48] on 14q were excluded by several markers.
48. Laing NG, Laing BA, Meredith C, Wilton SD, Robbins P, Honeyman K, et al. Autosomal dominant distal myopathy: linkage to chromosome 14. Am J Hum Genet 1995; 56:422-427.
49. Åhlberg G, Borg K, Edstrom L, Anvret M. Welander hereditary distal myopathy, a molecular genetic comparison to hereditary myopathies with inclusion bodies. Neuromusc Disord 1998; 8:111-114. The locus of the WDM was excluded from those of autosomal recessive hereditary DMRV on chromosome 9p1-q1 and of Finnish TMD on chromosome 2q.
50. Udd B, Kalimo H, Nokelainen P, Somer H. Tibial muscular dystrophy: clinical, genetic and morphological characteristics. In: Inclusion-body myositis and myopathies. Askanas VA, Serratrice G, Engel WK (editors). Cambridge: Cambridge University Press; 1998. pp. 232-243.
51. Brais B, Bouchard JP, Xie YG, Rochefort DL, Chretien N, Tome̊ FMS, et al. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nature Genet 1998; 18:164-167. Normal (GCG)6 repeat of the poly(A) binding protein 2 gene expanded to (GCG)8-13 in autosomal dominant oculopharyngeal muscular dystrophy families. Homozygosity for the (GCG)7 allele, which is found in 2% of the population, leads to autosomal recessive oculopharyngeal muscular dystrophy. Pathological expansions of the polyalanine tract may cause mutated poly(A) binding protein 2 oligomers to accumulate as filamentous inclusions in nuclei of muscle fibres.
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