PedAM

Pediatric Disease Annotations & Medicines

Disease	neuropathy
Phenotype	C0497327\|dementia
Sentences	7
PubMedID- 25815005	Hereditary sensory neuropathy with dementia and hearing loss (omim 614116), an adult-onset neurodegenerative disorder, is the first mendelian inherited “methylopathy" identified due to mutations in the dnmt1 gene affecting the rfts domain (klein et al., 2011).
PubMedID- 25033457	We previously discovered dnmt1 mutations cause hereditary sensory and autonomic neuropathy type 1 with dementia and hearing loss (hsan1e; omim 614116).
PubMedID- 22328086	Mutations in exon 20 of this gene were recently reported to cause hereditary sensory neuropathy with dementia and hearing loss (hsan1).
PubMedID- 21532572	Here we show mutations in dnmt1 cause both central and peripheral neurodegeneration in one form of hereditary sensory and autonomic neuropathy (hsan1) with dementia and hearing loss7,8.
PubMedID- 23365052	Background: mutations in dna methyltransferase 1 (dnmt1) have been identified in 2 autosomal dominant syndromes: 1) hereditary sensory autonomic neuropathy with dementia and hearing loss (hsan1e); and 2) cerebellar ataxia, deafness, and narcolepsy.
PubMedID- 21920049	Exome sequencing also led to the identification of mutations in dnmt1 that cause both central and peripheral neurodegeneration in a form of hereditary sensory and autonomic neuropathy with dementia and hearing loss [49].
PubMedID- 24727570	We report on the extensive phenotypic characterization of five italian patients from four unrelated families carrying dominant heterozygous dnmt1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type ie (hsan ie) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (adca-dn).

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