Gamma knife tremor patient comes back to get the other side done!

Our first tremor patient treated with gamma knife radiosurgery recently came back, one year later, to have the other side treated.
He has essential tremor, which was affecting both arms.
He had undergone treatment to the left brain for right sided tremor last year.
He was so pleased with his results, he recently came to have the right brain treated to address the left sided tremor.
Here is his most recent video.
Note the action and postural tremor on the left (untreated) side, and the fact that he has almost not residual tremor on the right (treated) side.

Click here to find out more about Gamma knife radiosurgery for tremor at the Monmouth Neuroscience Institute.

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Limbic Encephalitis

Post prepared by Precious Ramirez-Arao, Monmouth Medical Center PGY3

A 60 year-old female was found lethargic lying in a pool of feces by roommate.

EMS was called and was immediately brought to the hospital.

In the emergency department she had a witnessed generalized tonic-clonic seizure.

Her roommate relates she had episodes of confusion and short-term memory loss over the past few weeks.

She remained lethargic over the next 72 hours in the hospital.

48-hour EEG monitoring showed diffuse 2 to 3 Hz delta slowing with periodic lateralized epileptiform discharges emanating from the left frontal temporal region.

PLEDS

T2 weighted image of the brain showed signal abnormality of the left mesial temporal lobe and the pulvinar with diffusion restriction in the left hippocampus consistent with limbic encephalitis.

3568150_pone.0055758.g002

Limbic encephalitis (LE) is a subacute syndrome of seizures, personality change and cognitive dysfunction, typically evolving over days to weeks.

Autoimmune and paraneoplastic forms have been described. The most common neoplasms associated with paraneoplastic LE are lung cancer (usually small cell), thymoma, ovarian or testicular teratoma, breast cancer and Hodgkin lymphoma. The associated autoantibody depends on the tumor type. Lung cancer and thymomas are associated with anti-VGKC while ovarian or testicular teratomas are associated with antiNMDA antibodies.

Neurologic symptoms can precede oncologic diagnosis for several months to years and initial CT scans are typically unrevealing.

Nevertheless, prompt and thorough evaluation for malignancy including PET and CT scan of the chest, abdomen and pelvis should be initiated. Symptomatic treatment includes corticosteroids, plasmapharesis and intravenous immune globulin.

 

Broca’s Aphasia vs. Aphemia

Aphasia is a disorder of speech an language caused by a strategic brain lesion.

Broca’s aphasia is a non-fluent type of aphasia with preserved comprehension caused by a lesion in the dominant (usually left) frontal lobe.

Broca’s affects both speech and writing. Because comprehension is spared, patients can monitor their own speech and become frustrated.

Affected patients will often find some alternate means of communication, other than speaking or writing, like Breaking Bad’s Hector Salamanca:

Aphemia is similar to Broca’s aphasia, but is caused by smaller lesions such that affected patients cannot speak but can still communicate with writing:

Presentation2

 

 

Aphemia

Locked in syndrome vs. coma

Coma can be caused by diffuse injury or dysfunction of the brain’s cerebral cortex or a by a lesion affecting the reticular activating system in the brain stem.  A comatose patient is unable to consciously feel, speak, hear, or move.

Brain death is a very severe form of coma with complete loss of brain function.  Once this has occurred, the affected patient is legally dead even though the heart, circulation and lungs may still be supported by artificial means. Patients classified as brain-dead can have their organs surgically removed for organ donation.

A patient with locked in syndrome can appear like they are comatose because they can’t move or speak, but they are aware and alert.   However, they can usually blink or move their eyes, and may be able to establish communication with others in this way.

There are numerous reported cases of patients with locked in syndrome after strokes or head trauma being misdiagnosed as comatose or even brain dead, some narrowly avoiding having their organs harvested.

Stroke Patient Hears Doctors Discuss Organ Donation

If you ever suspect a comatose patient may actually be locked in, you can try to establish communication with eye blinks, or get an EEG which (unlike coma) will be normal and reactive in locked in syndrome.

Patients with locked in syndrome can regain some quality of life:

This plight was made famous in the movie “The Diving Bell And The Butterfly” which was based on a memoir written by journalist Jean-Dominique Bauby.

Jean-Dominique_Bauby

Jean-Dominique Bauby

 

Exon Skipping for Duchenne Muscular Dsystrophy

There was some exciting data presented at MDA’s 2014 clinical Conference held this week in Chicago regarding gene therapy for Duchenne muscular dystrophy (DMD).

What is exon skipping?

skimming_stones

Many cases of DMD are caused by small deletions in the dystrophin gene which lead to frame shifts and totally disrupt transcription:

If you imagine that the gene is made up of segments (or exons) which ultimately spliced together to make a recipe or message for producing the protein:

exon-skipping-scheme

A deletion of exon 71 would be considered “in frame” because the 70 and 72 could still joint up and allow transcription.  However, a deletion of exons 48 through 50 would be “out of frame” since 47 and 51 do not splice back together to form the message:

exon

The message would become corrupted and the gene product, in this case dystrophin, would be dysfunctional or even totally absent:

frameshift

The drug Eteplirsen will link 47 and 51 back together again, and in so doing restore the reading frame and facilitate transcription of an altered but hopefully functional gene product:

exon skiip

Does it work?

A clinical study started in August 2011

The preliminary results from this study were very encouraging – the boys who received the drug maintained strength and walking ability and there were no treatment related adverse effects.

What’s the next step?