Ataxia meets chorioretinal dystrophy and hypogonadism:Boucher-Neuhäuser syndrome due to PNPLA6 mutations

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 86, Issue 5, 2015, Pages 580-581

  Synofzik, Matthis ^a,b   Kernstock, Christoph ^b   Haack, Tobias B ^c,d   Schöls, Ludger ^a,b  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^d INSTITUTE OF EPIDEMIOLOGY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ACHILLES REFLEX; ADULT; BLINDNESS; BOUCHER NEUHAUSER SYNDROME; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; NOTE; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PERIPHERAL NEUROPATHY; PNPLA6 GENE; PRIMARY AMENORRHEA; PRIORITY JOURNAL; PYRAMIDAL SIGN; RETINA DEGENERATION; SPASTICITY; VISUAL ACUITY; VISUAL IMPAIRMENT; GENETICS; HYPOGONADISM; MUTATION; NEUROIMAGING; PATHOLOGY; RETINA DYSTROPHY; SPINOCEREBELLAR DEGENERATION;

PHOSPHOLIPASE; PNPLA6 PROTEIN, HUMAN;

FEMALE; HUMANS; HYPOGONADISM; MAGNETIC RESONANCE IMAGING; MUTATION; NEUROIMAGING; PHOSPHOLIPASES; RETINAL DYSTROPHIES; SPINOCEREBELLAR ATAXIAS; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 84927591958     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2014-307793     Document Type: Note

References (4)

1. Schmitz-Hubsch T, du Montcel ST, Baliko L, et al. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology 2006;66: 1717-20.
2. Boucher BJ, Gibberd FB. Familial ataxia, hypogonadism and retinal degeneration. Acta Neurol Scand 1969;45:507-10.
3. Limber ER, Bresnick GH, Lebovitz RM, et al. Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher-Neuhäuser syndrome). Am J Med Genet 1989;33:409-14.
4. Synofzik M, Gonzalez MA, Lourenco CM, et al. PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain 2014;137:69-77.