Study reports the clinical neuroimaging biochemical and molecular findings in three novel unrelated patients with new mutations in FA2H comparing their features with those previously reported in autosomal recessive spastic paraplegia 35 (SPG35).
One heterozygous deletion within 16q22.3-q23.1 including FA2H was observed in two siblings who share symptoms of autism and severe cognitive impairment axial T2-FLAIR weighted MRI posterior periventricular white matter lesions.
Identification of a novel triple heterozygous mutations in FA2H gene (c.968C>A; c.976G>A; c.688G>A) in a Chinese family with Hereditary Spastic Paraplegia Type 35.
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