Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25

Meulemann, J; Kuhlenbäumer, Gregor; Schirmacher, Anja; Wehnert, Manfred; P, De Jonghe; E, De Vriendt; Young, Peter; Airaksinen, Eila M.; Pou-Serradell, A; Jm, Prats Viñas; Ringelstein, Bernd; Stögbauer, Florian; Broeckhoven, Christine Van; Timmerman,

doi:10.1038/sj.ejhg.5200384

Cited by 31 publications

(9 citation statements)

References 15 publications

(27 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Subsequently, the locus has been refined to a 3,5 cM interval, and a clone-contig of the region was constructed [109,131,154,180]. The underlying genetic defect remains to be identified.…”

Section: Hereditary Recurrent Focal Neuropathiesmentioning

confidence: 99%

Clinical features and molecular genetics of hereditary peripheral neuropathies

Kuhlenbäumer

Young

Hünermund

et al. 2002

Journal of Neurology

Self Cite

129

View full text Add to dashboard Cite

Hereditary peripheral neuropathies are the most common monogenetically inherited diseases of the nervous system. The prevalence of the Hereditary Motor and Sensory Neuropathy Type 1A (HMSN 1A or Charcot-Marie-Tooth Neuropathy 1A, CMT1A) alone is estimated to be as high as 1/5000. In 1991, a duplication on chromosome 17p11.2 was identified as the causative genetic defect of CMT1A. Since then causative mutations in 17 genes have been identified. This review summarises the clinical and molecular genetic features of primary inherited neuropathies. It is aimed primarily at clinicians and geneticists. Therefore less emphasis is placed on the pathology and the (often unknown) underlying biological disease mechanisms.

show abstract

“…Subsequently, the locus has been refined to a 3,5 cM interval, and a clone-contig of the region was constructed [109,131,154,180]. The underlying genetic defect remains to be identified.…”

Section: Hereditary Recurrent Focal Neuropathiesmentioning

confidence: 99%

Clinical features and molecular genetics of hereditary peripheral neuropathies

Kuhlenbäumer

Young

Hünermund

et al. 2002

Journal of Neurology

Self Cite

129

View full text Add to dashboard Cite

show abstract

“…Minor dysmorphic features such as hypotelorism, epicanthal folds, and short stature may be associated with HNA (Windebank 1993). The HNA locus maps to chromosome 17q24-25 (Pellegrino et al 1996), within a 3.5-cM interval flanked by D17S785 and D17S802 (Meulemann et al 1999;Pellegrino et al 1997;Stögbauer et al 1997). Recently, genetic heterogeneity has been described in HNA (van Alfen et al 2000;Watts et al 2001).…”

Section: Introductionmentioning

confidence: 96%

Evidence of a founder effect and refinement of the hereditary neuralgic amyotrophy (HNA) locus on 17q25 in American families

2001

View full text Add to dashboard Cite

Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant disorder that is associated with episodic recurrent brachial plexus neuropathy. A mutation for HNA maps to chromosome 17q25. To refine the HNA locus further, we carried out genetic linkage studies in seven pedigrees with a high density set of DNA markers from chromosome 17q25. All pedigrees demonstrated linkage to chromosome 17q25, and an analysis of recombinant events placed the HNA locus within an interval of approximately 1 Mb flanked by markers D17S722 and D17S802. In order to test the power of linkage disequilibrium mapping, we compared genotypes of 12 markers from seven pedigrees that were from the United States and that showed linkage to chromosome 17q25. The haplotypes identified a founder effect in six of the seven pedigrees with a minimal shared haplotype that further refines the HNA locus to an interval of approximately 500 kb. These findings suggest that, for the pedigrees from the United States, there are at least two different mutations in the HNA gene.

show abstract

“…Since then a number of reports confirming genetic homogeneity and refining this locus have been published [6,8,10,13]. In 1999 Van Alfen et al published a detailed clinical analysis of 101 HNA attacks [12].…”

Section: Discussionmentioning

confidence: 93%

“…The calculations assumed autosomal dominant inheritance,a disease frequency of 1/10 000,phenocopy frequency at 0 % and equal male and female recombination rates. Seven age-dependent penetrance classes were used with a maximal penetrance of 95 % as described by Meuleman et al [6]. Allele frequencies of the STR markers were obtained from the Genome Data Base (http://gdbwww.gdb.org).…”

Section: S Linkage Analysismentioning

confidence: 99%

See 1 more Smart Citation

Hereditary Neuralgic Amyotrophy (HNA) is genetically heterogeneous

Kuhlenbäumer

Meuleman

Jonghe

et al. 2001

Journal of Neurology

Self Cite

View full text Add to dashboard Cite

Hereditary Neuralgic Amyotrophy (HNA) is an autosomal dominantly inherited recurrent focal neuropathy affecting mainly the brachial plexus. Linkage to markers on chromosome 17q25 was found in 1996 and subsequent reports confirmed linkage of HNA to this locus. Recently a family with a chronic undulating rather than remitting-relapsing clinical course of HNA was described by a Dutch group. This family did not have linkage to the 17q25 locus. Here we describe for the first time clinically and genetically two families with classic remitting-relapsing HNA that are not linked to the previously described HNA locus on chromosome 17q25. These results demonstrate that clinically homogeneous classical HNA is genetically heterogeneous.

show abstract

Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25

Cited by 31 publications

References 15 publications

Clinical features and molecular genetics of hereditary peripheral neuropathies

Clinical features and molecular genetics of hereditary peripheral neuropathies

Evidence of a founder effect and refinement of the hereditary neuralgic amyotrophy (HNA) locus on 17q25 in American families

Hereditary Neuralgic Amyotrophy (HNA) is genetically heterogeneous

Contact Info

Product

Resources

About