Schizophrenia and Hereditary Polyneuropathy: PMP22 Deletion as a Common Pathophysiological Link?
نویسندگان
چکیده
منابع مشابه
Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation.
In six families with hereditary neuropathy with liability to pressure palsies (HNPP) the 17p11.2 deletion was absent, but single strand conformation-analysis and subsequent sequencing demonstrated a heterozygous G-insertion in a stretch of six Gs at nt 276281 of the PMP22 gene, resulting in a frame shift after Gly94. Haplotype comparison of the six families revealed common ancestry. We compared...
متن کاملGenetic dosage compensation via co-occurrence of PMP22 duplication and PMP22 deletion.
Charcot-Marie-Tooth disease type 1 A (CMT1A, OMIM #118220) and hereditary neuropathy with liability to pressure palsies (HNPP or tomaculous neu-ropathy, OMIM #162500) are autosomal dominantly inherited neuropathies caused by genomic rearrangements on chromosome 17p11.2-p12 containing PMP22. Heterozygous PMP22 duplications result in a peripheral neuropathy characterized by distal muscular atroph...
متن کاملHereditary Neuropathy with Liability to Pressure Palsy Presenting as an Acute Brachial Plexopathy: A Lover's Palsy
It is generally regarded that patients with hereditary neuropathy to pressure palsies, due to a deletion in the PMP22 gene, show recurrent pressure palsy and generalised peripheral neuropathy (pes cavus and hammer toes sometimes develop). Brachial plexopathy is rarely identified as a first presentation of hereditary neuropathy to pressure palsies. We describe a young man who developed a painles...
متن کاملPMP22 exon 4 deletion causes ER retention of PMP22 and a gain‐of‐function allele in CMT1E
OBJECTIVE To determine whether predicted fork stalling and template switching (FoSTeS) during mitosis deletes exon 4 in peripheral myelin protein 22 KD (PMP22) and causes gain-of-function mutation associated with peripheral neuropathy in a family with Charcot-Marie-Tooth disease type 1E. METHODS Two siblings previously reported to have genomic rearrangements predicted to involve exon 4 of PMP...
متن کاملHereditary polyneuropathy in the Alaskan Malamute.
OBJECTIVE To prove the hypothesis that a polyneuropathy in Alaskan Malamutes has a genetic background. MATERIAL AND METHODS Pedigrees of 131 related Alaskan Malamutes were included in the current study. Neurological examination, electrodiagnosis as well as muscle and nerve biopsies could be performed in 10 dogs. Information about the disease status of the other 121 Alaskan Malamutes were supp...
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ژورنال
عنوان ژورنال: Frontiers in Psychiatry
سال: 2019
ISSN: 1664-0640
DOI: 10.3389/fpsyt.2019.00270