Nijmegen breakage syndrome (NBS) is a rare autosomal recessive congenital disorder causing chromosomal instability, probably as a result of a defect in the double Holliday junction DNA repair mechanism and/or the synthesis dependent strand annealing mechanism for repairing double strand breaks in DNA (see Homologous recombination).NBS1 codes for a protein (nibrin) that has two major functions: (1) to stop the cell cycle in the S phase, when there are errors in the cell DNA (2) to interact with FANCD2 that can activate the BRCA1/BRCA2 pathway of DNA repair. This explains why mutations in the NBS1 gene lead to higher levels of cancer (see Fanconi anemia, Cockayne syndrome.) The name derives from the Dutch city Nijmegen, where the condition was first described.Most people with NBS have West Slavic origins. The largest number of them live in Poland. Presentation
It is characterized by microcephaly, a distinct facial appearance, short stature, immunodeficiency, radiation sensitivity and a strong predisposition to lymphoid malignancy. NBS is caused by a mutation in the NBS1 gene. Unsurprisingly, many of the features are similar to ataxia telangiectasia (AT) and this syndrome was sometimes termed AT-variant 1, as the protein mutated in AT, ATM, interacts with the MRE11/RAD50/NBS1 (MRN) complex. Other syndromes with clinical features similar to Nijmegen Breakage Syndrome include RAD50 deficiency and Cernunnos/NHEJ deficiency. Cause
NBS is caused by a mutation in the NBS1 gene, located at human chromosome 8q21. The disease is inherited in an autosomal recessive manner.
Supernumerary phantom limb is a condition where the affected individual believes and receives sensory information from limbs of the body that do not actually exist, and never have existed, in contradistinction to phantom limbs, which appear after an individual has had a limb removed from the body and still receives input from it. An fMRI study of a subject with a supernumerary phantom left arm was done by Khateb et al. at the Laboratory of Experimental Neuropsychology at the University of Geneva. When the subject was told to touch her right cheek with the phantom limb, there was increased activity in the motor cortex of her brain in the area roughly corresponding to the left arm. When she announced that she had touched the phantom limb to her cheek, activity was monitored in the area of the somatosensory cortex that corresponded to the right cheek. At times during the experiment, the subject was asked to move the phantom limb to a location that was obstructed or otherwise unfeasible. In these instances, there was similar activation of the motor cortex but no such activity in the somatosensory cortex. Affected areas of the brain
Motor cortex
Somatosensory cortex
Tactile (touch) controlling areas

See also
Body integrity identity disorder (BIID)
Supernumerary body part – having an extra limb

References

McGeoch, P.D. et al. (2009). Apotemnophilia – the neurological basis of a ‘psychological’ disorder. Nature Precedings DOI: 10101/npre.2009.2954.1.