Boucher–Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature
The combination of progressive cerebellar degeneration, hypogonadotropic hypogonadism and chorioretinal dystrophy defines the rare Boucher–Neuhäuser syndrome (BNS), which has recently been linked to autosomal-recessive mutations in the PNPLA6 gene in four index patients. Here we present two novel un...
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Published in | Journal of neurology Vol. 262; no. 1; pp. 194 - 202 |
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Main Authors | , , , , , , , |
Format | Journal Article |
Language | English |
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Springer Berlin Heidelberg
2015
Springer Nature B.V |
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Abstract | The combination of progressive cerebellar degeneration, hypogonadotropic hypogonadism and chorioretinal dystrophy defines the rare Boucher–Neuhäuser syndrome (BNS), which has recently been linked to autosomal-recessive mutations in the
PNPLA6
gene in four index patients. Here we present two novel unrelated patients with BNS, where we identified four recessive
PNPLA6
mutations (3 of them novel) as the genetic cause, using a targeted high-throughput approach. This finding provides the first replication from independent families that BNS is caused by
PNPLA6
and, moreover, highlights
PNPLA6
as the major gene leading to BNS. Given the fact that the major gene causing BNS has thus now been identified, we summarize the spectrum of clinical presentations and phenotype evolution of BNS based on a systematic in-depth review of the literature of previously published cases (
n
= 40). Both the two cases presented here and our review of the literature propose that the clinical presentation of BNS can be variable regarding both the age (ranging from 1 to 40 years) and the clinical symptoms at onset (cerebellar ataxia in 38 %; vision loss in 36 %; delayed puberty in 26 %). A substantial fraction of BNS cases may present with relatively selective atrophy of the superior and dorsal parts of the cerebellar vermis along with atrophy of the cerebellar hemispheres on MRI, while brainstem or cortical changes on MRI seem to be present only in small fractions. Also in the literature, no other major genetic causes of BNS other than
PNPLA6
mutations were identified. |
---|---|
AbstractList | The combination of progressive cerebellar degeneration, hypogonadotropic hypogonadism and chorioretinal dystrophy defines the rare Boucher-Neuhäuser syndrome (BNS), which has recently been linked to autosomal-recessive mutations in the PNPLA6 gene in four index patients. Here we present two novel unrelated patients with BNS, where we identified four recessive PNPLA6 mutations (3 of them novel) as the genetic cause, using a targeted high-throughput approach. This finding provides the first replication from independent families that BNS is caused by PNPLA6 and, moreover, highlights PNPLA6 as the major gene leading to BNS. Given the fact that the major gene causing BNS has thus now been identified, we summarize the spectrum of clinical presentations and phenotype evolution of BNS based on a systematic in-depth review of the literature of previously published cases (n = 40). Both the two cases presented here and our review of the literature propose that the clinical presentation of BNS can be variable regarding both the age (ranging from 1 to 40 years) and the clinical symptoms at onset (cerebellar ataxia in 38 %; vision loss in 36 %; delayed puberty in 26 %). A substantial fraction of BNS cases may present with relatively selective atrophy of the superior and dorsal parts of the cerebellar vermis along with atrophy of the cerebellar hemispheres on MRI, while brainstem or cortical changes on MRI seem to be present only in small fractions. Also in the literature, no other major genetic causes of BNS other than PNPLA6 mutations were identified. The combination of progressive cerebellar degeneration, hypogonadotropic hypogonadism and chorioretinal dystrophy defines the rare Boucher–Neuhäuser syndrome (BNS), which has recently been linked to autosomal-recessive mutations in the PNPLA6 gene in four index patients. Here we present two novel unrelated patients with BNS, where we identified four recessive PNPLA6 mutations (3 of them novel) as the genetic cause, using a targeted high-throughput approach. This finding provides the first replication from independent families that BNS is caused by PNPLA6 and, moreover, highlights PNPLA6 as the major gene leading to BNS. Given the fact that the major gene causing BNS has thus now been identified, we summarize the spectrum of clinical presentations and phenotype evolution of BNS based on a systematic in-depth review of the literature of previously published cases ( n = 40). Both the two cases presented here and our review of the literature propose that the clinical presentation of BNS can be variable regarding both the age (ranging from 1 to 40 years) and the clinical symptoms at onset (cerebellar ataxia in 38 %; vision loss in 36 %; delayed puberty in 26 %). A substantial fraction of BNS cases may present with relatively selective atrophy of the superior and dorsal parts of the cerebellar vermis along with atrophy of the cerebellar hemispheres on MRI, while brainstem or cortical changes on MRI seem to be present only in small fractions. Also in the literature, no other major genetic causes of BNS other than PNPLA6 mutations were identified. |
Author | Gerth-Kahlert, C. Bauer, P. Tarnutzer, A. A. Synofzik, M. Straumann, D. Harmuth, F. Timmann, D. Chang, D. I. |
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Cites_doi | 10.1136/jnnp.44.1.79 10.1136/jnnp.2009.196790 10.1002/mds.21886 10.1016/j.jns.2010.05.005 10.1507/endocrj.42.367 10.1093/brain/87.3.463 10.1111/j.1399-0004.1975.tb00353.x 10.1002/mds.22831 10.1111/j.1399-0004.1991.tb03025.x 10.1093/brain/109.5.915 10.1002/ajmg.1320330325 10.1002/(SICI)1098-1004(1997)10:3<212::AID-HUMU6>3.0.CO;2-K 10.1136/jmg.40.1.e2 10.1093/brain/awt326 10.1093/brain/30.4.466 10.1111/j.1600-0404.1969.tb01261.x 10.1016/0303-8467(93)90087-W |
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Keywords | Hereditary spastic paraplegia Spastic ataxia Early onset ataxia Chorioretinal dystrophy Recessive ataxia Motor neuron disease Ataxia Genetics Retina Phospholipids |
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Snippet | The combination of progressive cerebellar degeneration, hypogonadotropic hypogonadism and chorioretinal dystrophy defines the rare Boucher–Neuhäuser syndrome... The combination of progressive cerebellar degeneration, hypogonadotropic hypogonadism and chorioretinal dystrophy defines the rare Boucher-Neuhäuser syndrome... |
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SubjectTerms | Adult Age Ataxia Atrophy Disease Gait Genetics Genotype & phenotype Humans Hypogonadism - genetics Hypogonadism - pathology Hypogonadism - physiopathology Kinases Literature reviews Male Medicine Medicine & Public Health Mutation Neurology Neuroradiology Neurosciences Original Communication Patients Pedigree Phospholipases - genetics Retinal Dystrophies - genetics Retinal Dystrophies - pathology Retinal Dystrophies - physiopathology Spasticity Spinocerebellar Ataxias - genetics Spinocerebellar Ataxias - pathology Spinocerebellar Ataxias - physiopathology Visual acuity |
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Title | Boucher–Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature |
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