title: Clinical and neurophysiological features of the hereditary neuropathy with liability to pressure palsy due to the 17p11.2 deletion.
abstract: The hereditary neuropathy with liability to pressure palsies (HNPP) is an autossomal dominant disorder manifesting recurrent mononeuropathies. Objective Evaluate its clinical and nerve conduction studies (NCS) characteristics, searching for diagnostic particularities. Method We reviewed the neurological manifestations of 39 and the NCS of 33 patients. Results Family history was absent in 16/39 (41%). The onset complaints were weakness in 24, pain in 6, sensory deficit in 5 and paresthesias in 4. Pain was seen in 3 other patients. The following neuropathy patterns were found: multiple mononeuropathy (26), mononeuropathy (7), chronic sensorimotor polyneuropathy (4), chronic sensory polyneuropathy (1) and unilateral brachial plexopathy (1). NCS showed a sensorimotor neuropathy with focal conduction slowing in 31, two had mononeuropathy and another brachial plexopathy. Conclusion HNPP presentation is variable and may include pain. The most frequent pattern is of an asymmetrical sensory and motor neuropathy with focal slowing at specific topographies on NCS.
authors.affiliation: Departamento de Neurociências e Ciências do Comportamento, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirao Preto, SP, Brazil.
authors.forename: Aline Pinheiro Martins
authors.initials: AP
authors.lastname: de Oliveira
authors.affiliation: Departamento de Neurociências e Ciências do Comportamento, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirao Preto, SP, Brazil.
authors.forename: Raquel Campos
authors.initials: RC
authors.lastname: Pereira
authors.affiliation: Departamento de Neurociências e Ciências do Comportamento, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirao Preto, SP, Brazil.
authors.forename: Patrícia Toscano
authors.initials: PT
authors.lastname: Onofre
authors.affiliation: Departamento de Neurociências e Ciências do Comportamento, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirao Preto, SP, Brazil.
authors.forename: Vanessa Daccach
authors.initials: VD
authors.lastname: Marques
authors.affiliation: Departamento de Neurociências e Ciências do Comportamento, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirao Preto, SP, Brazil.
authors.forename: Gilberto Brown
authors.initials: GB
authors.lastname: de Andrade
authors.affiliation: Departamento de Neurociências e Ciências do Comportamento, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirao Preto, SP, Brazil.
authors.forename: Amilton Antunes
authors.initials: AA
authors.lastname: Barreira
authors.affiliation: Departamento de Neurociências e Ciências do Comportamento, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirao Preto, SP, Brazil.
authors.forename: Wilson
authors.initials: W
authors.lastname: Marques Junior
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008875:Middle Aged; D009431:Neural Conduction / Q000502:physiology*; D009437:Neuralgia / Q000209:etiology; D010243:Paralysis; D010292:Paresthesia / Q000209:etiology; D010523:Peripheral Nervous System Diseases / Q000235:genetics / Q000503:physiopathology*; D011312:Pressure; D012678:Sensation Disorders / Q000209:etiology; D055815:Young Adult