Gene: [17q25/NAPB] neuritis with brachial predilection; brachial plexus neuropathy, hereditary; amyotrophy, hereditary neuralgic, with predilection for brachial plexus; [HNA ]
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COM |
A linkage of the NAPB locus with marker D17S939 on chromosome 17 (combined lod score = 10.94, theta = 0.05) was found by analysis of genetic homogeneity in 6 pedigrees (Pellegrino-1997) . The locus was placed within an approximately 4.0-cM interval flanked by D17S1603 and D17S802. Analysis of DNA from a human/mouse somatic cell hybrid using these linked markers suggested that band 17q25 harbors the NAPB locus." |
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PAT |
Neuralgic amyotrophy, sometimes referred to as hereditary neuralgic amyotrophy with predilection for the brachial plexus, is an autosomal dominant form of recurrent focal neuropathy characterized by painful episodes of brachial palsy (Windebank-1995). This disease starts from episodes of brachial plexus neuropathy with muscle weakness and atrophy, as well as sensory disturbances. In almost all cases, the onset of muscle weakness is preceded by severe pain in the affected arm. The age of onset of the disease is in the second and third decade of life, although children in the first decade may be affected. Recovery is usually complete and begins weeks to months after the onset of symptoms. Recurrent episodes affect the same as well as the opposite arm (Stogbauer-1997). Dysmorphic features, including hypotelorism, long nasal bridge, and facial asymmetry, are frequently associated with this disorder (Pellegrino-1997)." |
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HET |
[1] The presence of tomacula in some patients suggests a relationship to
hereditary neuropathy with liability to pressure palsies (HNPP; see GEM:17p112/PMP22). Both are autosomal dominant
disorders associated with episodic, recurrent brachial neuropathies. The
latter disorder is associated with deletion or abnormal structure of the
PMP22 gene on 17p12-p11.2 (GEM:17p112/PMP22), the same gene that is
duplicated or the site of point mutations in Charcot-Marie-Tooth disease,
type Ia (CMT1A).
[2] On disinhibition-dementia-Parkinsonism-amyotrophy complex mapped to 17 q21-22 see in GEM:17q2/DDPAC." |
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REF |
REV,PAT,HET,LIN "Chance PF, Windebank AJ: Curr Opin Neurol, 9, N5, 343-347,
1996 PAT,HET "Chance PF &: Neurology, 44, N12, 2253-2257, 1994 PAT,FOG "Orstavik K &: Clin Genet, 51, 421-425, 1997 PAT,LOC,LIN "Pellegrino JE &: Hum Genet, 101, 277-283, 1997 PAT,LOC,LIN "Pellegrino JE &: Neurology, 46, 1128-1132, 1996 PAT,LOC,LIN "Stogbauer F &: Hum Genet, 99, 685-687, 1997 PAT,HET "Windebank AJ &: Mayo Clin Proc, 70, 743-746, 1995 |
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KEY |
neu, myo |
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CLA |
unknown, basic |
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LOC |
17 q25 |
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MIM |
MIM: 162100 |
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SYN |
HNA |
