Does uniparental disomy of chromosome 16 unmask recessive mutations of FA2H/SPG35 in 4 families?
UPD has rarely been described as causative mechanism in neurodegenerative diseases. Of note, we identified this mode of inheritance in 4 families with the rare diagnosis of spastic paraplegia type 35 (SPG35). Since UPD seems to be a relevant factor in SPG35 and probably additional autosomal recessive diseases, we recommend segregation analysis especially in nonconsanguineous homozygous index cases to unravel UPD as mutational mechanism. This finding may bear major repercussion for genetic counseling, given the markedly reduced risk of recurrence for affected families.
There is no correlation between prevalence and advancement of sensorial neuropathy and current diabetes control in patients with long-term established diabetes.