Dr. La Piana, MD, PhD, Professor in McGill’s Department of Neurology and Neurosurgery, discusses adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

Transcription:

One of the features that really should be considered a red flag is the drug resistance of psychiatric symptoms. Many patients with drug-resistant depression should be considered under a certain lens, the progression of symptoms.

Unfortunately, nowadays, patients often get referred to geneticists only when motor symptoms appear. To give an example, it’s not unusual to have a patient with a three, four-years history of psychiatric disturbances, and only when a motor symptom appears, then they are referred to the neurologist.

Drug resistance, slow progression of symptoms, appearance of motor involvement, these should be the red flags that direct a patient to afford their genetic investigations. In terms of management, we need to add a piece of information to what we just said. This is a disorder which is rapidly progressive. Since diagnosis, the usual life expectancy is around six to seven years.

Patients and caregivers are presented with a disorder that is rapidly disabling. Therefore, that’s why we need to accelerate as much as possible the diagnostic process to provide patients and their caregivers with the possibility to enable everything that can support their life and their management of the disease.

Right now, there are no FDA approved treatments for specific targeting ALSP. Everything is done in a supportive way with symptomatic treatments. If patients, for example, experience seizures, antiepileptic drugs can be used. If patients have important specificity, we can use drugs and medications to address that issue. It’s really a type of supportive care.

The other thing is that a big part of the management of this patient is through occupational therapy, physical therapy, that can be a big support, especially because, for example, where there are people more expert than me in this field, but I will just mention that because it’s quite important.

Many symptoms are really related to cognitive and psychiatric disturbances. These patients often present with aphasia, so they have the incapacity of expressing themselves verbally, a severe apathy. They tend, for example, many patients tend to just retract and sit on the couch for hours. Through occupational therapy, implementing strategies, for example, that can offer patients a strict routine that has them go through the day, it’s really an important piece of puzzle, both for them and for the caregivers to organize the daily life.

Another thing that I forgot to say is that we are talking about a genetic condition. We are now at the stage where, of course, once you have a patient diagnosed in a family, we can provide genetic counseling to the rest of the family if members want to have it. We can now identify patients in a presymptomatic stage of disease.

In that sense, you see, the management is not just oriented towards a single person, but towards entire families. That’s another thing that physicians need to keep in mind.

For more information on this and other rare neurology and nervous system diseases, visit https://checkrare.com/diseases/neurology-nervous-system-diseases/