Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hereditäre distale Motorneuronen-Neuropathie Typ 5A

Wie das Silver-Syndrom ist die hereditäre distale Motorneuronen-Neuropathie eine autosomal dominante Erkrankung, die durch aktivierende Mutationen des BSCL2-Gens hervorgerufen wird.

Gliederung

Erbliche Nervenerkrankungen
Alzheimer Erkrankung
Autismus
Autosomal dominante zerebelläre Ataxie mit Schwerhörigkeit und Narkolepsie
Autosomal rezessive spastische Paraplegie 44
Brunner-Syndrom
Hereditäre benigne Chorea
Hereditäre distale Motorneuronen-Neuropathie Typ 5A
BSCL2
Hereditäre sensorisch-autonome Neuropathie Typ 2A
Hereditäre sensorische Neuropathie Typ 1E
Hypokalämische periodische Paralyse 1
Hypomyelinisierte Leukodystrophy 2
Idiopathische Kalzifikation der Basalganglien 1
Inkludionskörpermyopathie 2
Kongenitale Schmerzunempfindlichkeit mit Anhidrose
Nemaline-Myopathy 5
Neonatale Enzephalopathie mit Mikrozephalie
Nonaka-Myopathie
Porenzephalie
Rett-Syndrom
Spastische Paraplegie 17 mit Amyotrophie der Hände und Füße
Syndrom der Intelligenzminderung mit stark verzögerter Sprachentwicklung und milden Dysmorphien
X-chromosomale syndromale mentale Retardierung 13
Zerebrale Mikroangiopathie mit Blutung

Referenzen:

1.

Auer-Grumbach M et al. (2000) Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study.

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2.

Windpassinger C et al. (2004) Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.

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3.

Auer-Grumbach M et al. (2005) Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.

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4.

van de Warrenburg BP et al. (2006) BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy.

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5.

Ito D et al. (2007) Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases.

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6.

Ito D et al. (2009) Seipinopathy: a novel endoplasmic reticulum stress-associated disease.

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7.

Brusse E et al. (2009) A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?

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8.

Ellsworth RE et al. (1999) The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map.

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9.

Antonellis A et al. (2003) Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

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10.

Irobi J et al. (2004) Molecular genetics of distal hereditary motor neuropathies.

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11.

Dubourg O et al. (2006) The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.

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12.

Lander CM et al. (1976) Hereditary motor peripheral neuropathy predominantly affecting the arms.

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13.

van Gent EM et al. (1985) Distal amyotrophy of predominantly the upper limbs with pyramidal features in a large kinship.

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14.

Meadows JC et al. (1969) A distal form of chronic spinal muscular atrophy.

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15.

Sobue I et al. (1978) Juvenile type of distal and segmental muscular atrophy of upper extremities.

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16.

Christodoulou K et al. (1995) Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p.

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17.

Ionasescu V et al. (1996) Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).

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18.

Sambuughin N et al. (1998) Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15.

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