Fig. 4: Treatment of a single patient with HPDL encephalopathy with the CoQ10 headgroup intermediate 4-HB.
From: Coenzyme Q headgroup intermediates can ameliorate a mitochondrial encephalopathy
a, Pedigree of a patient with biallelic HPDL variants treated with 4-HB. The patient had two younger siblings who died in infancy; the second child shared the same genotype. b, Decrease in the Modified Ashworth Scale, a validated measure of spasticity, over the initial treatment course. Lack of spasticity = 0. Mitochondrial diseases generally show stability or increases in the Modified Ashworth Scale over time. c, Decrease in the Spastic Paraplegia Rating Scale (SPRS), a measure of spasticity and its effects on quality of life, over the treatment course to date. Mitochondrial diseases generally show stable or increased SPRS scores over time.
