HDL2 is inherited in an autosomal dominant manner. Surveillance: Monitor: nutrition and swallowing in order to implement feeding changes when necessary to minimize risk of aspiration gait and use appropriate strategies or devices to minimize falls driving to assure that affected individuals do not present a danger to themselves or others mood and irritability, such that measures to decrease the risk of suicide, other behavioral abnormalities, and distress may be implemented.Īgents/circumstances to avoid: Any agents that increase ataxia should be used with caution avoid polypharmacy, which may exacerbate delirium. Remove loose rugs and clutter from the individual's home and minimize or eliminate the need for stairs to help prevent falls and other injuries driving may need to be curtailed or limited to prevent risk of accidents food should be prepared in such a manner as to prevent choking. Education about the course of disease and environmental interventions (regular schedules, use of lists to assist memory). Antidepressants, antipsychotics, mood stabilizers (lithium, valproic acid, carbamazepine, and lamotrigine), and occasionally stimulants may improve psychiatric manifestations. Pharmacologic agents that may suppress abnormal movements include tetrabenazine and its derivatives, low-dose neuroleptic agents such as fluphenazine and haloperidol. Treatment of manifestations: Treatment is symptomatic and is presumably similar to that for HD and other neurodegenerative disorders – although this must be considered speculative pending objective data.
The diagnosis of HDL2 rests on positive family history, characteristic clinical findings, and the detection of an expansion of 40 or more CTG trinucleotide repeats in JPH3. There is a strong correlation between the duration of the disease and the progression of the motor and cognitive disorder. Neurologic abnormalities include chorea, hypokinesia (rigidity, bradykinesia), dysarthria, and hyperreflexia in the later stages of the disease.
HDL2 cannot be differentiated from Huntington disease clinically. As multiple mechanisms are involved in neuronal death, the use of drugs association should be considered in future neuroprotective therapeutic trials.Huntington disease-like 2 (HDL2) typically presents in midlife with a relentless progressive triad of movement, emotional, and cognitive abnormalities which lead to death within ten to 20 years. This may be due to the particular morphological and functional characteristics of these neurons, or to their location within the cerebral networks and the inputs they receive. Interestingly, there is a prominent vulnerability of the striatal neurons, despite the ubiquitous expression of Htt. Among these mechanisms, transcriptional dysregulation, mitochondrial dysfunction, increased excitotoxicity, as well as alteration of neuritic transport and synaptic transmission have been proposed. Various mechanisms have been proposed to account for neuronal dysfunction and death, and include both a gain of toxic function of the mutated Htt and a loss of function of the wild type Htt. The pathophysiology of Huntington's disease remains to be elucidated. This mutation leads to the expression of an abnormal repeat of polyglutamines in the N-terminal region of Htt. Huntington's disease is due to the mutation of the IT15 gene coding for Huntingtin protein (Htt).
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