Autosomal dominant hmsn with proximal involvement: New Brazilian cases

Arquivos de Neuro-Psiquiatria

Volumn 67, Issue 3 B, 2009, Pages 892-896

  Patroclo, Cristiane Borges ^a   Lino, Angelina Maria Martins ^a   Marchiori, Paulo Eurípides ^a   Brotto, Mário Wilson Iervolino ^a   Hirata, Maria Teresa Alves ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Axonal neuropathy; HMSN; HMSN P; Proximal motor neuropathy; Proximal muscle atrophy

Indexed keywords

ANTINUCLEAR ANTIBODY; CHOLESTEROL; CREATINE KINASE; CRYOGLOBULIN; GLUCOSE; IMMUNOGLOBULIN; LIPID; RHEUMATOID FACTOR; TRIACYLGLYCEROL;

ADULT; AREFLEXIA; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRAZIL; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CHOLESTEROL BLOOD LEVEL; CHROMOSOME 17P; CHROMOSOME DUPLICATION; CREATINE KINASE BLOOD LEVEL; DISEASE COURSE; DYSLIPIDEMIA; DYSPHAGIA; ELECTROPHYSIOLOGY; FASCICULATION; GENETIC VARIABILITY; GLUCOSE BLOOD LEVEL; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY MOTOR SENSORY NEUROPATHY WITH PROXIMAL DOMINANT INVOLVEMENT; HUMAN; HUMAN TISSUE; HYPERTENSION; HYPESTHESIA; KIDNEY FUNCTION; LABORATORY TEST; LEUKOCYTE COUNT; LIPID BLOOD LEVEL; LIVER FUNCTION; MALE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE CRAMP; MUSCLE WEAKNESS; NERVE BIOPSY; NEUROLOGIC EXAMINATION; PARESTHESIA; PHENOTYPE; SENSORY DYSFUNCTION; THYROID FUNCTION; TRIACYLGLYCEROL BLOOD LEVEL;

EID: 71949096072     PISSN: 0004282X     EISSN: 16784227     Source Type: Journal    
DOI: 10.1590/S0004-282X2009000500021     Document Type: Article

References (14)

1. Bertorini T, Narayanaswami, Rashed H. Charcot-Marie-Tooth (hereditary motor sensory neuropathies) and hereditary sensory and autonomic neuropathies. Neurologist 2004;10:327-336.
2. Takashima H, Nakagawa M, Nakahara K, Suchara M, Matsuzaki T, Higuchi I. A new type of hereditary motor and sensory neuropathy linked to chromosome 3. Ann Neurol 1997;41:777-780.
3. Takashima H, Nakagawa M, Suehara M, et al. Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1. Neuromuscul Disord 1999;9:368-371. (Pubitemid 29454595)
4. Nakagawa M, Takashima H, Suehara M, Saito M, et al. Hereditary motor and sensory neuropathy with proximal dominant involvement. Ann N Y Acad Sci 1999;883:449-452.
5. Maeda K, Kaji R, Yasuno K, et al. Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity. J Hum Genet 2007;52:907-914. (Pubitemid 350112485)
6. Maeda K, Sugiura M, Kato H, Sanada M, Kawai H, Yasuda H. Hereditary motor and sensory neuropathy (proximal dominant form, HMSN-P) among Brazilian of Japanese ancestry. Clin Neurol Neurosurg 2007;109:830-832. (Pubitemid 47391545)
7. rd Ed. Oxford University Press, 2001
8. rd Ed. Philadelphia: WB Saunders Co, 1993:514-595.
9. nd Ed. Edinburg: Churchill Livingstone, 1992:95-121.
10. Gundersen HJG. Stereology of arbitary particles. J Microsc 1986;143:3-45.
11. Lino AMM. [Immunohistochemical expression of TNF-α, Fas antigen, and GAP-43 and evaluation of apoptosis in human peripheral neuropathy: correlation with clinic, electrophysiology and histology]. Thesis. São Paulo Medical School of Medicine. São Paulo, 2000:178 p.
12. Zuchner S, Mersiyanova IV, Muglia M, et al. Mutations in the mitochondrial GTPase miotofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 2004;36:449-451. (Pubitemid 38620027)
13. Niemann A, Ruegy M, La PadulaV, Schenone A, Suter U. Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implication for Charcot-Marie-Tooth disease. J Cell Biol 2005;170:1067-1078. (Pubitemid 41362639)
14. Baloh RH, Scmidt RE, Pestronk A, Milbrandt J. Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations. J Neurosci 2007;27:422-430. (Pubitemid 46106016)