PSP: “what’s new?” – 5 types

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PSP folks –
A review article was recently published on what’s new in PSP.  I don’t have access to this full article.  It largely seems to be a summary of research published in 2009 by Williams and Lees regarding the five clinical types of PSP.  The most common type is Richardson’s syndrome.  In the abstract, the first paragraph describes the symptoms of Richardson’s syndrome but doesn’t use that term.
Robin

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Geriatrie et Psychologie Neuropsychiatrie du Vieillissement. 2011 May 1;9(2):191-201.

Progressive supranuclear palsy: what’s new?

Levy R.

Abstract
Progressive supranuclear palsy (PSP) has been described as a clinical syndrome characterized by an impairment of voluntary control of gaze (supranuclear palsy), postural and gait instability, and behavioral and cognitive deficits including a frontal syndrome and psychic retardation.

However, in the recent years, at least four other clinical forms of PSP have been recognized: PSP-Parkinsonism, “pure akinesia with gait freezing”, PSP with cortico-basal syndrome, and PSP with speech apraxia.

PSP-Parkinsonism mimics the signs and symptoms of idiopathic Parkinson’s disease, including a significant reactivity to levodopa.

“Pure akinesia with gait freezing” is characterized by a difficulty of self-initiation of motor programs, usually walking program.

PSP with cortico-basal syndrome mimics cortico-basal degeneration (CBD) in that unilateral or asymmetric limb dystonia and apraxia are prominent signs.

PSP with speech apraxia is an isolated syndrome of progressive anarthria.

All these clinical syndromes are due to brain accumulation of phosphorylated tau protein. The differences in clinical expression within the framework of PSP can be explained by the differences in the topographical distribution of the lesions. PSP is considered as a primary tau disease (“tauopathy”) such as CBD and some forms of fronto-temporal lobar degeneration. At the level of neuropathology, the pattern of tau abnormal inclusions differentiates PSP from other tau diseases, but some overlaps are reported. Moreover, several of the clinical forms of PSP partially or fully overlap with the other tauopathies. As a whole, the emergence of new clinical forms of PSP challenges the nosology of tauopathies and our understanding of these diseases.

PubMed ID#:  21690028  (see pubmed.gov for this abstract only)

Nature Genetics – June 2011 Landmark Study PSP Genetics

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Here’s the wonderful abstract from the PSP Genetics Study Group letter in the journal Nature Genetics:

Letter
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

Günter U Höglinger, Nadine M Melhem, Dennis W Dickson, Patrick M A Sleiman, Li-San Wang, Lambertus Klei, Rosa Rademakers, Rohan de Silva, Irene Litvan, David E Riley, John C van Swieten, Peter Heutink, Zbigniew K Wszolek, Ryan J Uitti,    Jana Vandrovcova, Howard I Hurtig, Rachel G Gross, Walter Maetzler, Stefano Goldwurm, Eduardo Tolosa, Barbara Borroni, Pau Pastor, PSP Genetics Study Group, Laura B Cantwell, Mi Ryung Han, Allissa Dillman, Marcel P van der Brug, J Raphael Gibbs, Mark R Cookson, Dena G Hernandez, Andrew B Singleton, Matthew J Farrer, Chang-En Yu, Lawrence I Golbe, Tamas Revesz, John Hardy, Andrew J Lees, Bernie Devlin, Hakon Hakonarson, Ulrich Müller & Gerard D Schellenberg

Nature Genetics (2011):10.1038/ng.859
Received 29 November 2010
Accepted 16 May 2011
Published online 19 June 2011

Abstract
Progressive supranuclear palsy (PSP) is a movement disorder with prominent tau neuropathology. Brain diseases with abnormal tau deposits are called tauopathies, the most common of which is Alzheimer’s disease. Environmental causes of tauopathies include repetitive head trauma associated with some sports. To identify common genetic variation contributing to risk for tauopathies, we carried out a genome-wide association study of 1,114 individuals with PSP (cases) and 3,247 controls (stage 1) followed by a second stage in which we genotyped 1,051 cases and 3,560 controls for the stage 1 SNPs that yielded P <= 10(-3). We found significant previously unidentified signals (P < 5 × 10(-eight)) associated with PSP risk at STX6, EIF2AK3 and MOBP. We confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT brain expression.  The genes implicated encode proteins for vesicle-membrane fusion at the Golgi-endosomal interface, for the endoplasmic reticulum unfolded protein response and for a myelin structural component.

The full article is available online at no charge here:

www.ncbi.nlm.nih.gov/pmc/articles/PMC3125476/

Fantastic!

Robin

 

Decision-Making Impairment May Precede Limb Apraxia (CBD)

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This recently-published letter from two Italian neurologists describes two patients initially diagnosed with parkinsonism. They were both given tests, including the Iowa Gambling Task (IGT), that revealed cognitive dysfunction. About 18 months later, both patients showed limb apraxia (based upon a Movement Imitation Test), resulting in a CBD diagnosis.

The two neurologists conclude: “These neuropsychological findings suggest that, in CBD patients, decision-making may be impaired early in the course of the disease and may sometimes precede the appearance of upper-limb apraxia. These findings also suggest that the IGT is a useful task to detect early cognitive impairments in patients with parkinsonism whose clinical symptoms are suggestive of CBD.”

I’ve copied the citation below.

Robin

Journal of Neuropsychiatry and Clinical Neurosciences. 2011 Winter;23(2):E29.

Letters
Decision-Making Impairment May Precede Limb Apraxia in Corticobasal Degeneration

Michele Poletti, M.D. and Ubaldo Bonuccelli, M.D.
Neurology Unit, USL of Viareggio, Italy Neuroscience Department, University of Pisa.

6 Things Never to Say to a Sick Friend + 4 Things…

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I ran across this article tonight, and it certainly resonated. Many people with neurodegenerative disorders report that they dislike being told “you look great,” particularly when most of the symptoms are non-motor ones. The article’s author, who dealt with bone cancer, details 6 things you should never say to a friend or relative who’s sick and 4 things you can always say…

http://www.nytimes.com/2011/06/12/fashi … -life.html
(access to the NYT is no longer free beyond a certain number of articles each month)

(Excerpts from)

June 10, 2011
New York Times

This Life
‘You Look Great’ and Other Lies
By Bruce Feiler

…So at the risk of offending some well-meaning people, here are Six Things You Should Never Say to a Friend (or Relative or Colleague) Who’s Sick. And Four Things You Can Always Say.

First, the Nevers.

1. WHAT CAN I DO TO HELP?

2. MY THOUGHTS AND PRAYERS ARE WITH YOU.

3. DID YOU TRY THAT MANGO COLONIC I RECOMMENDED?

4. EVERYTHING WILL BE O.K.

5. HOW ARE WE TODAY?

6. YOU LOOK GREAT.

So what do patients like to hear? Here are four suggestions.

1. DON’T WRITE ME BACK.

2. I SHOULD BE GOING NOW.

3. WOULD YOU LIKE SOME GOSSIP?

4. I LOVE YOU.

Bruce Feiler’s memoir, “The Council of Dads: A Story of Family, Friendship and Learning How to Live,” has just been published in paperback.

Song “Speak to Me” + Story Behind It

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An online friend, Mike Guerrieri, works for the American Speech-Language Hearing Association. Speech therapists (speech language pathologists) are ASHA members, along with some other disciplines. Members of our local support group see speech therapists as the disorders in our group include speech and swallowing symptoms.

Mike’s mother Kathe died almost a year ago. She had autopsy-confirmed MSA (multiple system atrophy).

Mike was inspired to write a song, “Speak to Me,” because of his mother’s struggles with communication. Kathe’s voice and swallow were weakened by MSA. As a result, Mike was made “more aware of how critical human communication is.” The song celebrates speech-language pathologists and audiologists.

The beautiful song can be listened to here:
http://www.asha.org/Events/convention/2 … hive/song/

Mike plays guitar in the recording.

You can see photos of Mike and Kathe here along with more of the story behind the song:
http://www.asha.org/Events/convention/2 … ong-story/

Robin