Sorting out the inherited neuropathies

Practical Neurology

Volumn 7, Issue 2, 2007, Pages 93-105

  Reilly, Mary M ^a  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 32;

AUTOSOMAL DISORDER; AUTOSOMAL RECESSIVE DISORDER; CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; DISEASE SEVERITY; GENE MUTATION; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITY; HUMAN; INHERITANCE; MOTOR NERVE CONDUCTION; NERVE BIOPSY; NERVE PARALYSIS; NEUROPATHY; PHENOTYPE; REVIEW; X CHROMOSOME LINKED DISORDER;

CHARCOT-MARIE-TOOTH DISEASE; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS;

EID: 34147204967     PISSN: 14747758     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (21)

1. Reilly MM, Hanna MG. Genetic neuromuscular disease. J Neurol Neurosurg Psychiatry 2002;73(Suppl II):ii12-ii2l.
2. Pareyson D, Scaioli V, Laurà M. Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease. Neuromolecular Med 2006; 8:3-22.
3. Dubourg O, Azzedine H, Verny C, et al. Autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease. Neuromolecular Med 2006;8:75-85.
4. Nelis E, Van Broeckhoven C, De Jonghe P, et al. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet 1996;4:25-33.
5. Shy ME, Jani A, Krajewski K, et al. Phenotypic clustering in MPZ mutations. Brain 2004;127:371-84.
6. Kleopa KA, Scherer SS. Molecular genetics of X-linked Charcot-Marie-Tooth disease. Neuromolecular Med 2006; 8:107-22.
7. Paulson H, Garbern JY, Hoban TF, et al. Transient central nervous system white matter abnormality in x-linked Charcot-Marie-Tooth disease. Ann Neurol 2002;52:429-34.
8. Gabreëls-Festen A, van Beersum S, Eshuis L, et al. Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth di5ease) with a gene locus on chromosome 5q23-q33. J Neurol Neurosurg Psychiatry 1999;66:569-74.
9. Varon R, Gooding R, Steglich C, et al. Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet 2003;35:185-9.
10. Zuchner S, Mersiyanova IV, Muglia M, et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 2004;36:449-51.
11. Zuchner S, De Jonghe P, Jordanova A, et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol 2006;59:276-81.
12. Auer-Grumbach M, De Jonghe P, Verhoeven K, et al. Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review. Arch Neurol 2003;60:329-34.
13. Verhoeven K, De Jonghe P, Coen K, et al. Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet 2003;72:722-7.
14. Houlden H, King R, Bblake J, et al. Clinical, pathological and genetic characterisation of hereditary sensory and autonomic neuropathy type 1 (HSAN I). Brain 2006;129:411-25.
15. Antonellis A, Ellsworth RE, Sambuughin N, et al. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet 2003; 72:1293-9.
16. De Sandre-Giovannoli A, Chaouch M, Kozlov S, et al. Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am J Hum Genet 2003:70:726-36.
17. Cuesta A, Pedrola L, Sevilla T, et al. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Genet 2002; 30:22-5.
18. Kuhlenbäumer G, et al. Mutations in the human septin gene cause hereditary neuralgic amyotrophy (HNA). Nat Genet 2005; 37:1044-6.
19. Houlden H, Blake J, Reilly MM. Hereditary sensory neuropathies. Curr Opin Neurol 2004;17:569-77.
20. Auer-Grumbach M, Mauko B, Auer-Grumbach P, et al. Molecular genetics of hereditary sensory neuropathies. Neuromolecular Med 2006;8:147-58.
21. McEntagart M, Norton N, Williams H, et al. Localisation of the gene for distal hereditary motor neuronopathy type VII (dHMN-VII) to chromosome 2q14. Am J Hum Genet 2001;68:1270-6.