A brazilian family with Brown-Vialettovan Laere syndrome with autosomal recessive inheritance

被引：10

作者：

Malheiros, Jose Augusto ^{[1
]}

Camargos, Sarah Teixeira ^{[1
]}

de Oliveira, Jose Teotonio ^{[1
]}

Cardoso, Francisco E. C. ^{[1
]}

机构：

[1] Univ Fed Minas Gerais, Sch Med, Dept Internal Med, BR-30000 Belo Horizonte, MG, Brazil

来源：

ARQUIVOS DE NEURO-PSIQUIATRIA | 2007年 / 65卷 / 01期

关键词：

Brown-Vialetto-van Laere syndrome; autosomal recessive inheritance; hearing impairment;

D O I：

10.1590/S0004-282X2007000100008

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

We report the first Brazilian family with Brown-Vialetto-van Laere syndrome. The presence of consanguineous marriages and illness affecting three sisters and one niece support an autosomal recessive transmission. The age at onset of the illness ranged from 12 to 20 years old. The time interval between hearing loss and involvement of other cranial nerves varied from 3 to 12 years. MRI demonstrated bulbar atrophy and also high intensity signal at T2 weighted and fluid attenuated inversion recovery (FLAIR) sequences.

引用

页码：32 / 35

页数：4

共 26 条

[1]

Aydin OF, 2004, ACTA NEUROL BELG, V104, P111

[2] HEREDITARY DISTAL MUSCULAR-ATROPHY WITH VOCAL CORD PARALYSIS AND SENSORINEURAL HEARING-LOSS - A DOMINANT FORM OF SPINAL MUSCULAR-ATROPHY [J].

BOLTSHAUSER, E ;

LANG, W ;

SPILLMANN, T ;

HOF, E .

JOURNAL OF MEDICAL GENETICS, 1989, 26 (02) :105-108

[3]

Brown, 1894, J NERV MENT DIS, V21, P707, DOI [10.1097/00005053-189411000-00003, DOI 10.1097/00005053-189411000-00003]

[4]

Davenport R J, 1994, Eur J Neurol, V1, P51, DOI 10.1111/j.1468-1331.1994.tb00050.x

[5] Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease [J].

Dipti, S ;

Childs, AM ;

Livingston, JH ;

Aggarwal, AK ;

Miller, M ;

Williams, C ;

Crow, YJ .

BRAIN & DEVELOPMENT, 2005, 27 (06) :443-446

[6] BROWN-VIALETTO-VANLAERE SYNDROME [J].

FRANCIS, DA ;

PONSFORD, JR ;

WILES, CM ;

THOMAS, PK ;

DUCHEN, LW .

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 1993, 19 (01) :91-94

[7] PONTO-BULBAR PALSY WITH DEAFNESS (BROWN-VIALETTO-VANLAERE SYNDROME) - A REPORT ON 3 CASES [J].

GALLAI, V ;

HOCKADAY, JM ;

HUGHES, JT ;

LANE, DJ ;

OPPENHEIMER, DR ;

RUSHWORTH, G .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1981, 50 (02) :259-275

[8] MADRAS PATTERN OF MOTOR NEURON DISEASE IN SOUTH-INDIA [J].

GOURIEDEVI, M ;

SURESH, TG .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1988, 51 (06) :773-777

[9]

GRANDIS D, 2005, NEUROMUSCULAR DISORD, V15, P565

[10] PONTOBULBAR PALSY AND NEUROSENSORY DEAFNESS (BROWN-VIALETTO-VANLAERE SYNDROME) WITH POSSIBLE AUTOSOMAL DOMINANT INHERITANCE [J].

HAWKINS, SA ;

NEVIN, NC ;

HARDING, AE .

JOURNAL OF MEDICAL GENETICS, 1990, 27 (03) :176-179

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