PMID- 12072826
OWN - NLM
STAT- MEDLINE
DCOM- 20020729
LR  - 20091119
IS  - 0035-3787 (Print)
IS  - 0035-3787 (Linking)
VI  - 158
IP  - 5 Pt 1
DP  - 2002 May
TI  - [Hereditary neuropathy with liability to pressure palsies: study of six Spanish 
      families].
PG  - 579-88
AB  - Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal 
      dominant inherited demyelinating neuropathy typically characterized by recurrent 
      episodes of acute painless peripheral nerve palsies often preceded by minor 
      trauma or compression at entrapment sites. However, less classical phenotypes 
      have been reported. A 1.5 Mb deletion in chromosome 17 p11.2 has been shown to be 
      the genetic basis of the disease in the majority of HNPP patients. The few 
      families without this deletion harbored a mutation in the PMP22 gene. We 
      performed a clinical, neurophysiological and molecular genetic study of 6 Spanish 
      HNPP families. Five families (22 individuals) showed the classical chromosome 17 
      p11.2 deletion and one family (3 individuals) had a novel 3'splice-site mutation 
      in PMP22. Neurophysiological abnormalities were detected in all symptomatic 
      (n=21) and asymptomatic (n=4) deletion or mutation carriers, even in childhood. 
      In addition to the typical presentation we observed other phenotypes: recurrent 
      focal short-term sensory symptoms, a progressive mononeuropathy, a 
      Charcot-Marie-Tooth (CMT) disease-like chronic progressive polyneuropathy, a 
      chronic sensory polyneuropathy and a chronic inflammatory demyelinating 
      polyneuropathy. We report new or very rare phenotypesThese atypical clinical 
      aspects and intrafamilial heterogeneity are present in families with the HNPP 
      deletion as well as in the family with the PMP22 mutation. However, the CMT 
      disease-like chronic polyneuropathy was more common in the PMP22 mutation family. 
      Intrafamilial heterogeneity also seemed to be more pronounced in this kinship. 
      Patients in this family had a mild chronic motor and sensory polyneuropathy 
      neurophysiologically characterized by delayed distal latencies, reduced nerve 
      conduction velocities (NCV) within the demyelinating range, mildly decreased 
      amplitudes of motor and sensory evoked potentials and absence of conduction 
      blocks. In contrast, patients with the common HNPP deletion, regardless of their 
      phenotype, had a diffuse increase in distal motor latencies contrasting with 
      moderately reduced motor NCVs, preserved sensory nerve action potentials, slowing 
      of NCVs at the common entrapment sites and occasionally conduction blocks. In 
      this study we confirm the clinical and molecular heterogeneity of HNPP, 
      emphasizing the need for a mutation analysis of the PMP22 gene when the common 
      17p11.2 deletion is not found in clinically suspected HNPP patients. We conclude 
      that the 3'splice-site mutation in PMP22 and the common HNPP deletion have 
      largely the same functional consequences although some clinical and 
      neurophysiological differences were observed.
FAU - Pou Serradell, A
AU  - Pou Serradell A
AD  - Service de Neurologie, Hopital del Mar, Universite Autonome de Barcelone (UAB), 
      Barcelone, Espagne, France.
FAU - Monells, J
AU  - Monells J
FAU - Tellez, M J
AU  - Tellez MJ
FAU - Fossas, P
AU  - Fossas P
FAU - Lofgren, A
AU  - Lofgren A
FAU - Meuleman, J
AU  - Meuleman J
FAU - Timmerman, V
AU  - Timmerman V
FAU - De Jonghe, P
AU  - De Jonghe P
FAU - Ceuterick, C
AU  - Ceuterick C
FAU - Martin, J J
AU  - Martin JJ
LA  - fre
PT  - English Abstract
PT  - Journal Article
TT  - Neuropathies hereditaires sensibles a la pression: etude de six familles 
      espagnoles.
PL  - France
TA  - Rev Neurol (Paris)
JT  - Revue neurologique
JID - 2984779R
RN  - 0 (Codon)
RN  - 0 (Myelin Proteins)
RN  - 0 (PMP22 protein, human)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Child
MH  - Child, Preschool
MH  - Chromosomes, Human, Pair 17/*genetics/ultrastructure
MH  - Codon/genetics
MH  - Disease Progression
MH  - Exons/genetics
MH  - Fasciculation/etiology
MH  - Female
MH  - Genetic Heterogeneity
MH  - Hereditary Sensory and Motor Neuropathy/*epidemiology/genetics/physiopathology
MH  - Humans
MH  - Inflammation
MH  - Male
MH  - Middle Aged
MH  - Myelin Proteins/*deficiency/genetics
MH  - Neural Conduction
MH  - Peripheral Nerves/pathology/physiopathology
MH  - Phenotype
MH  - Pressure/*adverse effects
MH  - RNA Splicing/genetics
MH  - Radial Nerve/physiopathology
MH  - Reaction Time
MH  - Sequence Deletion
MH  - Spain/epidemiology
EDAT- 2002/06/20 10:00
MHDA- 2002/07/30 10:01
CRDT- 2002/06/20 10:00
PHST- 2002/06/20 10:00 [pubmed]
PHST- 2002/07/30 10:01 [medline]
PHST- 2002/06/20 10:00 [entrez]
AID - MDOI-RN-05-2002-158-5-C1-0035-3787-101019-ART6 [pii]
PST - ppublish
SO  - Rev Neurol (Paris). 2002 May;158(5 Pt 1):579-88.