[P1-183] Clinical and genetic analysis on 4 Chinese patients with Canavan Disease
[Objective]To clarify clinical and genetic features of 4 Chinese patients with Caravan Disease. [Method]Clinical information including medical history, physical signs, and auxiliary examinations as well as peripheral bloods were collected from four patients and their family members. Genetic analysis was performed for available members through Sanger-sequencing of ASPA. [Results] All 4 patients were clinically diagnosed with Canavan Disease manifesting with development delay, classic MRI features and elevated NAA in uria. The onset age was ranged from 3 to 5 month. Hypotonia appeared in all patients, whose motor development were profoundly delayed, and head control had never been obtained. Macrocephaly, nystagmus and epilepsia was found in two, one and one patient, respectively. The classic MRI showed symmetric cerebral subcortical and central white matter abnormal signals. Periventricular cysts were found in one patient. Basal ganglia, brainstem, as well as thalamus also involved in some patients. One patient showed NAA peak on the MRS, but without increased NAA in urine, while increased uric NAA and MRS NAA peak were observed in other patients who were performed with these tests. Four patients were genetically diagnosed with 5 novel mutations in ASPA, including 4 missense mutations c.524T>G(P175R), c.348C>G(H116Q), c.187A>G(R63G), c.542C>A(P181H), and 1 nonsense mutation c.79G>T(p.G27X). Silico analysis indicated that all variants were disease causing. [Conclusion] 4 Chinese Canavan Disease patients were clinically and genetically diagnosed, and 5 novel mutations in ASPA were identified, which present clinical features of Chinese CD patients and broaden ASPA mutation spectrums.