Genes associated with HSP
ABHD16A, ABCD1, ACER3, ACP33, AFG3L2, ALDH18A1, AMFR, AP4B1, AP4E1, AP4M1, AP4S1, ARL6IP1, ATL1, BICD2, BSCL2, C12orf65, C19orf12, CCT5, CERS1, CLN8, CNTNAP1, COQ4, CPT1C, CYP2U1, DDHD1, DDHD2, DSTYK, ERLIN2, FA2H, FARS2, GBA2, GJC2, GLE1, HACE1, HSPD1, KIF1A, KIF1C, KIF5A, NIPA1, NT5C2, PGAP1, PGAP3, PNPLA6, REEP1, RINT1, RTN2, SCN1A, SLC16A2, SLC33A1, SLC39A14, SPAST, SPG11, SPG15, SPG21, SPG7, TFG, TREX1, VPS37A, WASHC5, ZFYVE26, ZFYVE27
Participate in research
Physicians may refer their patients with diagnoses of HSP to Dr. Ebrahimi-Fakhari. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about Dr. Ebrahimi-Fakhari’s studies on the Ebrahimi-Fakhari Lab webpage.
Patient care
Patients and their families with HSP can be seen by an expert multidisciplinary team in the Movement Disorders Program at Boston Children’s.