Familial bulbospinal neuronopathy with optic atrophy: A distinct entity

Journal of Neurology Neurosurgery and Psychiatry

Volumn 61, Issue 2, 1996, Pages 196-199

  Paradiso, Guillermo ^a   Micheli, Federico ^b   Taratuto, Ana Lía ^a   Casas Parera, Ignacio ^c  

^a HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^b HOSPITAL DE CLÍNICAS JOSÉ DE SAN MARTÍN   (Argentina)

^c Department of Neurology   (Argentina)

Author keywords

Bulbospinal neuronopathy; Genetics; Optic neuropathy

Indexed keywords

ANDROGEN RECEPTOR; SEX HORMONE;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DIABETES MELLITUS; FAMILY HISTORY; FEMALE; HEREDITARY SPINAL MUSCULAR ATROPHY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MOTOR NEUROPATHY; NEUROPHYSIOLOGY; OPTIC NERVE DISEASE; PRIORITY JOURNAL; RECEPTOR GENE; SENSORY NEUROPATHY;

EID: 0029809441     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.61.2.196     Document Type: Article

References (14)

1. Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. Neurology 1968 18:671-80.
2. La Spada AR, Wilson EM, Lubalm DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991; 352:77-9.
3. Sobue G, Doyu M, Kachi T, et al. Subclinical phenotypic expressions in heterozigous females of X-linked recessive bulbospinal neuronopathy. J Neurol Sci 1993;117:74-8.
4. Finkel N. A forma pseudomiopática tardia da atrofia muscular progressive heredo-familial. Arquinos de Neuro-Psiquiatria 1962;4:307-22.
5. Kaeser HE. Scapuloperoneal muscular atrophy. Brain 1965;88:407-18.
6. Fenichel GM, Emery ES, Hunt P. Neurogenic atrophy simulating facioscapulohumeral dystrophy. A dominant form. Arch Neurol 1967;17:257-60.
7. Namba T, Aberfeld DC, Grob D. Chronic proximal spinal muscular atrophy. J Neurol Sci 1970;11:401-23.
8. Zatz M, Penha-Serrano C, Frota-Pessoa O, Klein D. A malignant form of neurogenic muscular atrophy in adults, with dominant inheritance. J Genet Hum 1971;19: 337-54.
9. Schiffer D, Brignolio F, Chiò A, Giordana MT, Migheli A. Clinical-anatomic study of a family with bulbo-spinal muscular atrophy in adults. J Neurol Sci 1986;73:11-22.
10. Milhorat AT. Studies in diseases of muscle. XIV. Progressive muscular atrophy of peroneal type associated with atrophy of the optic nerves; report on a family. Arch Neurol Psychiatry 1943;50:279-87.
11. Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I-Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies. Arch Neurol 1968;18:603-18.
12. Gamstorp I, Wohlfart G. A syndrome characterized by myokymia, muscular wasting and increased perspiration. Acta Psychiat Neurol Scand 1959;34:181-94.
13. Lance JW, Burke D, Pollard J. Hyperexcitability of motor and sensory neurons in neuromyotonia. Ann Neurol 1979;5:523-32.
14. Tsukagoshi H, Nakanishi T, Kondo K, Tsubaki T. Hereditary proximal neurogenic muscular atrophy in adult. Arch Neurol 1965;12:597-603.