Pigmentary degenerative maculopathy in a CYP2U1/SPG56 family

Conclusioni Materials/Methods: Patient 1 is a 50 year-old man, with progressive walking unsteadiness and progressive visual loss after age 30 years. His healthy consanguineous parents originated from a small village in Campania. He showed paraparetic gait, lower limbs spasticity and brisk tendon reflexes, bilateral Babisnki sign (SPRS 8/52) and mild cerebellar signs. EMG/NCS disclosed a subclinical axonal motor and sensory polyneuropathy. MRI showed mild brainstem and cerebellar atrophy as well as a moderately thinned corpus callosum. His 46-year-old sister was similarly affected with onset after age 30 years. Patient 3 is their 42 year-old first cousin on both mother’s and father's side. After extensive genetic analyses (ARSACS, SPG7, SPG11, SPG15), a homozygous c.1168C>T (p.R390*) pathogenic mutation in the coding region of CYP2U1 was detected in all three patients, allowing a diagnosis of SGP56. As visual acuity of all patients was severely reduced (1/10 and 2/10, in patients 1 and 3 respectively), complete ophthalmologic evaluation, including (ocular fundus, OCT scan, PEV and PERG, was undertaken, which disclosed a pigmentary degenerative maculopathy 1Dept. Scienze e Biotecnologie Medico-Chirurgiche, Rome Sapienza University Polo Pontino. 2 Molecular Medicine, Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy. 3IRCCS Neuromed Institute, Pozzilli, IS, Italy. 4 IRCCS G.B. Bietti Foundation IRCCS G.B. Bietti Foundation Roma