Huntington Disease Like 2 (Hdl2) is a progressive neurodegenerative disorder characterized by the gradual loss of neuronal function. This page provides comprehensive information about the disease, including its pathophysiology, clinical presentation, diagnosis, and current therapeutic approaches.
Huntington's Disease-Like 2 (HDL2) is a rare, autosomal dominant neurodegenerative disorder that clinically resembles Huntington's Disease but is caused by a distinct genetic mutation. It was first described in 2001 and is considered one of the Huntington's Disease-like (HDL) syndromes[1]. HDL2 is caused by a JPH3 gene mutation and presents with chorea, dystonia, cognitive decline, and behavioral changes. [1]
HDL2 follows an autosomal dominant inheritance pattern with complete penetrance by age 70. [2]
Junctophilin-3 is a member of the junctophilin family of proteins that contribute to the formation of junctional membrane complexes between the endoplasmic reticulum and plasma membrane. This is crucial for calcium signaling in muscle and neuronal cells[3]. [3]
The study of Huntington Disease Like 2 (Hdl2) has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development. [4]
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions. [5]
Additional evidence sources: [6] [7]
Recent publications on HDL2 (Huntington disease-like 2).
^2]: Walker RH, Jankovic J, O'Hearn E, Margolis RL. Phenotypic features of Huntington's Disease-like 2. 2003. ↩︎
^3]: Takeshima H, Komazaki S, Nishi M, Iino M, Kangawa K. [Junctophilins: novel molecular components of the Ca2+ release unit that determine the architecture of the junctional membrane complex](https://doi.org/10.1016/s1097-2765(00). 2000. ↩︎
^4]: Rudnicki DD, Margolis RL. Huntington's Disease-like 2: a more recent cause of parkinsonism and dementia. 2022. ↩︎
^5]: Bardien S, Abrahams F, Soodyall H, et al. A South African mixed ancestry family with Huntington's Disease-like 2: clinical and genetic features. 2007. ↩︎
^6]: Vu CC, Bannykh SI, Hall J, et al. Neuroimaging in Huntington's Disease-like 2: a case report. 2014. ↩︎
^7]: Wild EJ, Tabrizi SJ. Huntington's Disease and Huntington's Disease-like syndromes. 2023. ↩︎
^8]: Rodrigues GR, Walker RH, Benaissa H, et al. Huntington's Disease-like 2: review of the literature and description of an additional family. 2020. ↩︎