RESUMO
OBJECTIVE: We describe three patients from a family with motor and sensory neuropathy accompanied by open-angle glaucoma. BACKGROUND: Autosomal recessive demyelinating hereditary motor and sensory neuropathies (HMSN) include different disorders. To our knowledge, autosomal recessive HMSN has not been associated with juvenile onset glaucoma. METHODS: Sural nerve pathology of the three patients were examined, and genetic analysis of the family was performed. RESULT: - The most prominent pathologic finding was a highly unusual myelin abnormality consisting of irregular redundant loops and folding of the myelin sheath. The family survey supports autosomal recessive inheritance. The molecular analysis failed to demonstrate either linkage of the disease to MPZ gene, PMP22 gene, Cx32 gene, orEGR2 gene. Analysis did not establish linkage of the disease to the locus of CMT4A, 4B, and 4C genes. CONCLUSION: The present cases may represent a new type of HMSN accompanied by juvenile onset glaucoma.
Assuntos
Glaucoma de Ângulo Aberto/complicações , Neuropatia Hereditária Motora e Sensorial/complicações , Bainha de Mielina/química , Adulto , Análise Mutacional de DNA , Feminino , Genes Recessivos , Ligação Genética , Glaucoma de Ângulo Aberto/genética , Glaucoma de Ângulo Aberto/patologia , Neuropatia Hereditária Motora e Sensorial/genética , Neuropatia Hereditária Motora e Sensorial/patologia , Humanos , Japão , Masculino , Microscopia Eletrônica , Pessoa de Meia-Idade , Bainha de Mielina/genética , Bainha de Mielina/patologia , Bainha de Mielina/ultraestrutura , Linhagem , Dobramento de Proteína , Nervo Sural/patologia , Nervo Sural/ultraestruturaRESUMO
We describe the clinical and pathological studies in HTLV-I associated myelopathy (HAM)/tropical spastic paraparesis (TSP) patients with peripheral neuropathy as proven by sural nerve biopsy. Sural nerve pathology in HAM/TSP patients revealed that the most common type of pathologic change is a combination of both demyelination and remyelination and axonal degeneration and regeneration, and this change is modified by the complications. The pathologic changes were correlated with neither the duration of disease nor human T lymphotropic virus type I (HTLV-I) proviral load. This study suggests that peripheral nerves could be involved in HAM/TSP.
Assuntos
Axônios/patologia , Infecções por HTLV-I/patologia , Doenças do Sistema Nervoso Periférico/patologia , Nervo Sural/patologia , Idoso , Feminino , Infecções por HTLV-I/fisiopatologia , Vírus Linfotrópico T Tipo 1 Humano/crescimento & desenvolvimento , Vírus Linfotrópico T Tipo 1 Humano/isolamento & purificação , Humanos , Masculino , Pessoa de Meia-Idade , Bainha de Mielina/patologia , Doenças do Sistema Nervoso Periférico/etiologia , Doenças do Sistema Nervoso Periférico/fisiopatologia , Carga ViralRESUMO
We report the clinical, electrophysiological, and pathological findings of two unrelated Japanese families with hereditary neuropathy with liability to pressure palsies (HNPP) and confirm the findings of a deletion of peripheral myelin protein-22 (PMP-22) gene. Electrophysiological studies revealed slowing of nerve conduction velocities of the affected nerves. Sural nerve biopsy revealed regions of myelin duplication. The copy numbers of PMP-22 gene was lower than that of normal control, suggesting deletion of 17p11.2 including PMP-22 gene. Our results indicate that HNPP in these two Japanese families is attributable to deletion of 17p11.2 including PMP-22 gene.
Assuntos
Doença de Charcot-Marie-Tooth/genética , Deleção Cromossômica , Cromossomos Humanos Par 17 , Proteínas da Mielina/genética , Doenças do Sistema Nervoso Periférico/genética , Idoso , Biópsia , Doença de Charcot-Marie-Tooth/patologia , Dosagem de Genes , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Doenças do Sistema Nervoso Periférico/patologia , Nervo Sural/patologiaAssuntos
Glaucoma de Ângulo Aberto/complicações , Neuropatia Hereditária Motora e Sensorial/complicações , Adulto , Consanguinidade , Feminino , Fundo de Olho , Glaucoma de Ângulo Aberto/diagnóstico , Neuropatia Hereditária Motora e Sensorial/diagnóstico , Humanos , Pressão Intraocular , Masculino , Pessoa de Meia-Idade , Hipertensão Ocular/complicações , Hipertensão Ocular/diagnóstico , Linhagem , Nervo Sural/patologiaRESUMO
A patient with mixed gonadal dysgenesis showed glove and stocking-type sensory impairment and slowing of motor and sensory nerve conduction. Sural nerve biopsy revealed minifascicular formation with decreased density of myelinated fibers. As far as we are aware, this is the first report of polyneuropathy with minifascicular formation in 46XY mixed gonadal dysgenesis.