Dentatorubral-Pallidoluysian Atrophy

Watchlist

(log in to enable)

Retrieved

2022-04-26

Source

Gard

Trials

—

Genes

ATN1, PRNP, AFG3L2, TSC1, TBC1D24, NHLRC1, CERS1, KCNC1, GOSR2, CHD2, NEU1, LMNB2, SACS, EPM2A, SERPINI1, CLN6, PRDM8, LY6E, TBP, ATXN3, ALB, ATXN1, ATXN2, ATXN7, CACNA1A, AR, JPH3, TWNK, PPP2R2B, TLR4, TNF, HTT, ATXN8OS, FXN, RSC1A1, IL18, SPTBN2, CASP3, CST3, EDN1, WNK1, TAF4, POU5F1P3, GSTK1, BEAN1, SLCO6A1, TK2, NES, ATXN10, TYR, SUMO1, HDL3, VWF, NBAS, HAVCR1, RIPK2, SYT1, PLEKHG4, GORASP1, ADM, SNCA, FABP1, HIF1A, GAPDH, FUS, FRAXE, FRAXA, FGF14, EZH2, IGHE, CRP, CREBBP, CDKN2A, TNFRSF8, BCL2, XIAP, HMOX1, IL6, SCN7A, POU5F1, RELA, RANGAP1, PTHLH, ADORA1, MAPK3, PRKCG, PDYN, ITPR1, SERPINE1, NAGLU, MPO, CD99, NBR1, LCN2, POU5F1P4

Drugs

Acetylleucine, Ceftriaxone, Trans-resveratrol

Interested in hearing about new therapies?

Dentatorubral-pallidoluysian atrophy (DRPLA) is a brain disorder that worsens over time. It can lead to involuntary movements, mental and emotional problems, and a decline in thinking ability. Symptoms usually appear around 30 years of age, but can occur anytime from infancy to mid-adulthood. Specific signs and symptoms may differ and include seizures, issues with balance and coordination (ataxia), and involuntary muscle jerking or twitching (myoclonus). Other symptoms that usually appear in adulthood include dementia and psychiatric conditions. DRPLA is caused by a mutation in the ATN1 gene and is inherited in an autosomal dominant manner. Although there is no specific treatment or cure for DRPLA, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person’s symptoms.