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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 clinical syndrome, with  POLG1 -associated encephalopathy, which is so far a purely molecularly defined syndrome with a quite heterogeneous clinical picture. However, the present report contributes to expand the phenotypic spectrum of  POLG1  mutations underlining the importance of searching  POLG1  mutations in patients with mitochondrial signs and MELAS like phenotypes but negative for common mtDNA mutations.

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