Hereditary motor and sensory neuropathy type Lom, initially identified in Roma (Gypsy) families from Bulgaria, has been mapped to 8q24. Further refined mapping of the region has been undertaken on DNA from patients diagnosed across Europe. The refined map consists of 25 microsatellite markers over approximately 3 cM. In this collaborative study we have identified a number of historical recombin...

Quantitative sensory testing was used to assess the prevalence of sensory dysfunction in patients with cancer, carefully screened for other risk factors for neuropathy. Large fibre type sensory function was evaluated using vibration threshold (VT) determinations while small fibre type sensory function was assessed by thermal threshold (TT) determinations. Mean VT and TT were significantly eleva...

Two HIV infected patients presented with peripheral neuropathy, in one patient this was originally ascribed to HIV associated mononeuritis multiplex and in the other to stavudine. Investigations confirmed these diagnoses and in both cases genetic analysis identified a second hereditary aetiology: in the first patient hereditary neuropathy with liability to pressure palsies and in the second her...

Three unrelated Oriental Jewish families with a total of eight subjects with progressive hereditary sensory neuropathy are reported. The parents were all unaffected and because of parental consanguinity in each of the three families it is postulated that this rare neurological disorder is transmitted in an autosomal recessive manner. In one family both parents showed an abnormal response to pai...

Peripheral neuropathy is not uncommon in ovarian cancer. The incidence density of peripheral neuropathy was 21.5 per 1000 person-years in ovarian cancer, 15.3 per 1000 person-years in breast cancer and 18.3 per 1000 person-years in lung cancer for patients who received platinum-taxane combination chemotherapy (Nurgalieva et al., 2010). Carboplatin/paclitaxel is the chemotherapy of choice for ad...

Autosomal dominant hereditary sensory neuropathy (HSN I) is a clinically and genetically heterogeneous group of disorders, and in some families it is due to mutations in the serine palmitoyltransferase (SPTLC1) gene. We have characterized two families with HSN I associated with cough and gastro-oesophageal reflux (GOR). From a large Australian family, 27 individuals and from a smaller family, 1...