Distal hereditary motor neuropathies (dHMN)

  • F. StÖgbauer
  • G. KuhlenbÄumer


Spinal Muscular Atrophy Vocal Cord Paralysis Hereditary Spastic Paraplegia Congenital Muscular Dystrophy Progressive Muscular Atrophy 
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  1. 1.
    Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, et al. (2003) Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V. Am J Hum Genet 72:1293–1299PubMedCrossRefGoogle Scholar
  2. 2.
    Auer-Grumbach M, Loscher WN, Wagner K, Petek E, Korner E, Offenbacher H, et al. (2000) Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study. Brain 123:1612–1623PubMedCrossRefGoogle Scholar
  3. 3.
    Benn SC, Perrelet D, Kato AC, Scholz J, Decosterd I, Mannion RJ, et al. (2002) Hsp27 upregulation and phosphorylation is required for injured sensory and motor neuron survival. Neuron 36:45–56PubMedCrossRefGoogle Scholar
  4. 4.
    Bertini E, Gadisseux JL, Palmieri G, Ricci E, Di Capua M, Ferriere G, et al. (1989) Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: a variant of infantile spinal muscular atrophy. Am J Med Genet 33:328–335PubMedCrossRefGoogle Scholar
  5. 5.
    Bruey JM, Ducasse C, Bonniaud P, Ravagnan L, Susin SA, Diaz-Latoud C, et al. (2000) Hsp27 negatively regulates cell death by interacting with cytochrome c. Nat Cell Biol 2:645–652PubMedGoogle Scholar
  6. 6.
    Chance PF, Rabin BA, Ryan SG, Ding Y, Scavina M, Crain B, et al. (1998) Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34. Am J Hum Genet 62:633–640PubMedCrossRefGoogle Scholar
  7. 7.
    Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, et al. (2004) DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4). Am J Hum Genet 74:1128–1135PubMedGoogle Scholar
  8. 8.
    Christodoulou K, Kyriakides T, Hristova AH, Georgiou DM, Kalaydjieva L, Yshpekova B, et al. (1995) Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p. Hum Mol Genet 4:1629–1632PubMedGoogle Scholar
  9. 9.
    Christodoulou K, Zamba E, Tsingis M, Mubaidin A, Horani K, Abu-Sheik S, et al. (2000) A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12. Ann Neurol 48:877–884PubMedCrossRefGoogle Scholar
  10. 10.
    Davis CJ, Bradley WG, Madrid R (1978) The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification. J Genet Hum 26:311–349PubMedGoogle Scholar
  11. 11.
    Dyck PJ, Litchy WJ, Minnerath S, Bird TD, Chance PF, Schaid DJ, et al. (1994) Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis. Ann Neurol 35:608–615PubMedCrossRefGoogle Scholar
  12. 12.
    Evgrafov OV, Mersiyanova I, Irobi J, Van Den Bosch L, Dierick I, Leung CL, et al. (2004) Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet 36:602–606PubMedCrossRefGoogle Scholar
  13. 13.
    Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, et al. (2001) Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet 29:75–77PubMedCrossRefGoogle Scholar
  14. 14.
    Grohmann K, Wienker TF, Saar K, Rudnik-Schöneborn S, Stoltenburg-Didinger G, Rossi R, et al. (1999) Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form is linked to chromosome 11q13-q21. Am J Hum Genet 65:1459–1462PubMedCrossRefGoogle Scholar
  15. 15.
    Harding AE (1993) Inherited neuronal atrophy and degeneration predominantly of lower motor neurons. In: Dyck PJ, Thomas PK (eds) Peripheral Neuropathy. 3rd. Saunders, Philadelphia, pp 1051–1063Google Scholar
  16. 16.
    Harding AE, Thomas PK (1980) Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature. J Neurol Sci 45:337–348PubMedCrossRefGoogle Scholar
  17. 17.
    Ionasescu V, Searby C, Sheffield V, Roklina T, Nishimura D, Ionasescu R (1996) Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). Hum Mol Genet 5:1373–1375PubMedCrossRefGoogle Scholar
  18. 18.
    Irobi J, Van Impe K, Seeman P, Jordanova A, Dierick I, Verpoorten N, et al. (2004) Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nat Genet 36:597–601PubMedCrossRefGoogle Scholar
  19. 19.
    Kamradt MC, Chen F, Sam S, Cryns VL (2002) The small heat-shock protein alpha B-crystallin negatively regulates apoptosis during myogenic differentiation by inhibiting caspase-3 activation. J Biol Chem 277:38731–38736PubMedCrossRefGoogle Scholar
  20. 20.
    Klein CJ, Cunningham JM, Atkinson EJ, Schaid DJ, Hebbring SJ, Anderson SA, et al. (2003) The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders. Neurology 60:1151–1156PubMedGoogle Scholar
  21. 21.
    LaMonte BH, Wallace KE, Holloway BA, Shelly SS, Ascano J, Tokito M, et al. (2002) Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration. Neuron 34:715–727PubMedCrossRefGoogle Scholar
  22. 22.
    McEntagart M, Norton N, Williams H, Teare MD, Dunstan M, Baker P, et al. (2001) Localization of the gene for distal hereditary motor neuronopathy VII (dHMN VII) to chromosome 2q14. Am J Hum Genet 68:1270–1276PubMedCrossRefGoogle Scholar
  23. 23.
    McLeod JG, Prineas JW (1971) Distal type of chronic spinal muscular atrophy. Clinical, electrophysiological and pathological studies. Brain 94:703–714PubMedGoogle Scholar
  24. 24.
    Mellins RB, Hays AP, Gold AP, Berdon WE, Bowdler JD (1974) Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease. Pediatrics 53:33–40PubMedGoogle Scholar
  25. 25.
    Patel H, Hart PE, Warner TT, Houlston RS, Patton MA, Jeffery S, et al. (2001) The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype. Am J Hum Genet 69:209–215PubMedGoogle Scholar
  26. 26.
    Pearn J, Hudgson P (1979) Distal spinal muscular atrophy. A clinical and genetic study of 8 kindreds. J Neurol Sci 43:183–191PubMedCrossRefGoogle Scholar
  27. 27.
    Pridmore C, Baraitser M, Brett EM, Harding AE (1992) Distal spinal muscular atrophy with vocal cord paralysis. J Med Genet 29:197–199PubMedCrossRefGoogle Scholar
  28. 28.
    Puls I, Jonnakuty C, LaMonte BH, Holzbaur EL, Tokito M, Mann E, et al. (2003) Mutant dynactin in motor neuron disease. Nat Genet 33:455–456PubMedCrossRefGoogle Scholar
  29. 29.
    Sambuughin N, Sivakumar K, Selenge B, Lee HS, Friedlich D, Baasanjav D, et al. (1998) Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15. J Neurol Sci 161:23–28PubMedCrossRefGoogle Scholar
  30. 30.
    Schmalbruch H, Jensen HJ, Bjaerg M, Kamieniecka Z, Kurland L (1991) A new mouse mutant with progressive motor neuronopathy. J Neuropathol Exp Neurol 50:192–204PubMedCrossRefGoogle Scholar
  31. 31.
    Timmerman V, De Jonghe P, Simokovic S, Lofgren A, Beuten J, Nelis E, et al. (1996) Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24. Hum Mol Genet 5:1065–1069PubMedCrossRefGoogle Scholar
  32. 32.
    Viollet L, Barois A, Rebeiz JG, Rifai Z, Burlet P, Zarhrate M, et al. (2002) Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13. Ann Neurol 51:585–592PubMedCrossRefGoogle Scholar
  33. 33.
    Viollet L, Zarhrate M, Maystadt I, Estournet-Mathiaut B, Barois A, Desguerre I, et al. (2004) Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families. Eur J Hum Genet 12:483–488PubMedCrossRefGoogle Scholar
  34. 34.
    Vleminckx V, Van Damme P, Goffin K, Delye H, Van Den Bosch L, Robberecht W (2002) Upregulation of HSP27 in a transgenic model of ALS. J Neuropathol Exp Neurol 61:968–974PubMedGoogle Scholar
  35. 35.
    Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Horl G, et al. (2004) Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet 36:271–276PubMedCrossRefGoogle Scholar
  36. 36.
    Young ID, Harper PS (1980) Hereditary distal spinal muscular atrophy with vocal cord paralysis. J Neurol Neurosurg Psychiatry 43:413–418PubMedGoogle Scholar

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© Steinkopff Verlag Darmstadt 2005

Authors and Affiliations

  • F. StÖgbauer
  • G. KuhlenbÄumer

There are no affiliations available

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