POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome.

ABSTRACT:

Background

POLG1 mutations have been associated with MELAS-like phenotypes. However given several clinical differences it is unknown whether POLG1 mutations are possible causes of MELAS or give raise to a distinct clinical and genetic entity, named POLG1-associated encephalopathy.

Case presentation

We describe a 74 years old man carrying POLG1 mutations presenting with strokes, myopathy and ragged red fibers with some atypical aspects for MELAS such as late onset, lack of cerebral calcification and presence of frontal and occipital MRI lesions better consistent with the POLG associated-encephalopathy spectrum.

Conclusion

The lack of available data hampers a definite diagnosis in our patient as well as makes it difficult to compare MELAS, which is a clearly defined cli

SUBMITTER: Cheldi A 

PROVIDER: S-EPMC3570393 | biostudies-literature | 2013 Jan

REPOSITORIES: biostudies-literature