Hereditary neuralgic amyotrophy: Evidence for genetic homogeneity and mapping to chromosome 17q25

Human Genetics

Volumn 101, Issue 3, 1997, Pages 277-283

  Pellegrino, Joan E ^a,b   George, Roberta A V ^a   Biegel, Jacquelyn ^a,b   Farlow, Martin R ^c   Gardner, Kathy ^d   Caress, Judy ^c   Brown, Mark J ^b   Rebbeck, Timothy R ^b   Bird, Thomas D ^e   Chance, Phillip F ^a,b  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c INDIANA UNIVERSITY MEDICAL CENTER   (United States)

^d UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA MARKER;

ARTICLE; CHROMOSOME 17Q; CONTROLLED STUDY; CROSSING OVER; FEMALE; GENE MAPPING; GENETIC LINKAGE; HUMAN; HUMAN CELL; HYBRID CELL; MAJOR CLINICAL STUDY; MALE; MUSCLE ATROPHY; NEURALGIA; PEDIGREE ANALYSIS; PRIORITY JOURNAL;

EID: 0031433106     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050629     Document Type: Article

References (25)

1. Airaksien EM, Iivanainen M, Sainio K, Haltia M (1985) Herediaty recurrent brachial plexus neuropathy with dysmorphic features. Acta Neurol Scand 71:309-316
2. Arts WFM, Busch HFM, Van Denbrand HJ, Jennekens FGI, Frants RR, Stefanko SZ (1983) Hereditary neuralgic amyotrophy. J Neurol Sci 62:261-279
3. Boshart M, Weih F, Nichols M, Schutz G (1991) The tissue-specific extinguisher locus TSE1 encodes a regulatory subunit of the cAMP-dependent protein kinase. Cell 66:849-859
4. Chance PF, Matsunami N, Lensch MW, Smith B, Bird TD (1992) Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus. Neurology 42:2037-2041
5. Chance PF, Lensch MW, Lipe H, Brown RH Sr, Brown RH Jr, Bird TD (1994) Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct genetic disorders. Neurology 44:2253-2257
6. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J (1996) A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature 380:152-154
7. Dreschfeld J (1886) On some of the rarer forms of muscular atrophies. Brain 9:178-195
8. Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanovic M, Weissenbach J, Mansour S, Young ID, Goodfellow PN, Brook JD, Schafer AJ (1994) Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 372:525-530
9. Gardner JH, Maloney W (1968) Hereditary brachial and cranial neuritis genetically linked with ocular hypotelorism and syndactyly. Neurology 18:278-281
10. Geiger LR, Mancall EL, Penn AS, Tucker SH (1974) Familial neuralgic amyotrophy. Brain 97:87-102
11. lies DE, Segers B, Sengers RCA, Monsieurs K, Heytens L, Halsall PJ, Hopkins PM, Ellis FR, Hall-Curran JL, Stewart AD, Wieringa B (1993). Genetic mapping of the B and Y subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility. Hum Mol Genet 2:863-868
12. Jacob JC, Andermann F, Robb JP (1961). Heredofamilial neuritis with brachial predilection. Neurology 11:1025-1033
13. Jones KW, Shapero MH, Chevrette M, Fournier REK (1991) Subtractive hybridization cloning of a tissue-specific extinguisher: TSE1 encodes a regulatory subunit of protein kinase A. Cell 62:861-872
14. Jurkat-Rott K, Lehmann-Horn F, Elbaz A, Heine R, Gregg RG, Hogan K, Powers PA, Lapie P, Vale-Santos JE, Weissenbach J, et al (1994) A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet 3:1415-1419
15. Ophoff RA, Terwindt GM, Vergouwe MN, Eijk R van, Oefner PJ, Huffman SM, Lamerdin JE, Mohrenweiser MW, Bulman DE, Ferrari M, Haan J, Lindhout D, Ommen GJ van, Hofker MH, Ferrari MD, Frants RR (1996) Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 87:543-552
16. Ott J (1991) Analysis of human genetic linkage. The Johns Hopkins University Press, Baltimore, p 111
17. Pellegrino JE, Rebbeck TR, Brown MJ, Bird TD, Chance PF (1996) Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q. Neurology 46:1128-1132
18. Stögbauer F, Young P, Timmerman V, Spoelders P, Ringelstein EB, Van Broeckhoven C, Kuriemann G (1997) Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24-q25. Hum Genet 99:685-687
19. Sudbrak R, Golla A, Hogan K, Powers P, Gregg R, DuChesne I, Lehmann-Hom F, Deufel T (1993) Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the a1, b1, and y subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect. Hum Mol Genet 2:857-862
20. Taylor RA (1960) Heredofamilial mononeuritis multiplex with brachial predilection. Brain 83:113-137
21. Tommerup N, Schempp W, Meinecke P, Pedersen S, Bolund L, Brandt C, Goodpasture C, Guldberg P, Held KR, Reinwein H, Saugstad OD, Scherer G, Skjeldal O, Toder R, Westvik J, Hagen CB van der, Wolf U (1993) Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1. Nat Genet 4:170-173
22. Tsairis P, Dyck PJ, Mulder DW (1972) Natural history of brachial plexus neuropathy. Arch Neurol 27:109-117
23. Ungley CC (1933) Recurrent polyneuritis in pregnancy and the puerperium affecting three members of a family. J Neurol Psychopathol 14:15-26
24. Windebank AJ (1993) Inherited recurrent focal neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (eds) Peripheral Neuropathy, 3rd edn. Saunders, Philadelphia, pp 1137-1148
25. Yamada Y, Stoffel M, Espinosa R III, Xiang K-S, Seino M, Seino S, LeBeau MM, Bell GI (1993). Human somatostatin receptor genes: localization to human chromosomes 14, 17, and 22 and identification of simple tandem repeat polymorphisms. Genomics 15:449-452