Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary distal motor neuron neuropathy type 5A

Like Silver syndrome, Hereditary distal motor neuron neuropathy is an autosomal dominant disorder caused by gain-of-function mutations of the BSCL2 gene.

Systematic

Hereditary neurological disorders
Alzheimer disease
Arts syndrome
Autism
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Autosomal recessive spastic paraplegia type 44
Brain malformations with urinary tract defects
Brain small vessel disease with hemorrhage
Brunner syndrome
Charcot-Marie-Tooth disease
Congenital insensitivity to pain with anhidrosis
Hereditary benign chorea
Hereditary distal motor neuron neuropathy type 5A
BSCL2
Hereditary muscle diseases
Hereditary sensory and autonomic neuropathy type 2A
Hereditary sensory neuropathy type 1E
Hypokalemic periodic paralysis 1
Hypomyelinating Leukodystrophy 2
Idiopathic basal ganglia calcification 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Migraine
Nemaline myopathy 5
Porencephaly
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Spastic paraplegia 17 with amyotrophy of hands and feet
Susceptibility to glioma
Vascular dementia
X-linked syndromic mental retardation 13

References:

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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19.

OMIM.ORG article

Omim 600794 [^]
Update: April 29, 2019