Next-generation sequencing for detection of mutations associated with rare disorders in patients meeting diagnostic criteria for primary progressive multiple sclerosis

2013 ◽  
Vol 333 ◽  
pp. e362
Author(s):  
J.D. Weisfeld-Adams ◽  
A. Ludtke ◽  
S.A. Scott ◽  
I. Katzsand ◽  
H. Naik ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Next Generation Sequencing ◽  
Diagnostic Criteria ◽  
Progressive Multiple Sclerosis ◽  
Primary Progressive Multiple Sclerosis ◽  
Next Generation ◽  
Rare Disorders ◽  
Primary Progressive ◽  
Detection Of Mutations ◽  
Generation Sequencing

A proposed modification to the McDonald 2010 criteria for the diagnosis of primary progressive multiple sclerosis

2012 ◽  
Vol 19 (8) ◽  
pp. 1095-1100 ◽  
Author(s):  
SB Kelly ◽  
K Kinsella ◽  
M Duggan ◽  
N Tubridy ◽  
C McGuigan ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Spinal Cord ◽  
Diagnostic Criteria ◽  
Progressive Multiple Sclerosis ◽  
Diagnostic Sensitivity ◽  
Oligoclonal Bands ◽  
Primary Progressive Multiple Sclerosis ◽  
Primary Progressive ◽  
Mcdonald Criteria ◽  
The Brain

Background: The diagnostic criteria for primary–progressive multiple sclerosis (PPMS) have undergone revision over the last 20 years. Cerebrospinal fluid oligoclonal bands (CSFOBs) have received less emphasis in recent revisions of the McDonald criteria. The aim of this study was to examine the sensitivity of the diagnostic criteria for PPMS with particular reference to spinal cord criteria and examine the utility of CSFOBs in a cohort of PPMS patients. Methods: All new PPMS diagnoses between 1990 and 2011 were identified. Baseline clinical details and paraclinical evaluations including MRI of the brain, spinal cord, CSF and visually evoked responses (VERs) were assessed. The proportion of patients who met the requirements for diagnosis of PPMS on the basis of Thompson’s and the McDonald Criteria (2001, 2005, 2010) were determined. Results: There were 88/95 PPMS patients who had at least two diagnostic investigations. The sensitivity of Thompson’s and the McDonald 2001 criteria was 64%; the McDonald 2010 revisions gave the highest sensitivity (77%); the McDonald 2005 criteria had intermediate sensitivity (74%). The combination of CSFOBs and MRI of the brain yielded the greatest number of patients demonstrating dissemination in space (DIS) on only two investigations. VERs did not aid diagnosis. Reducing requirements for the number of spinal cord lesions (symptomatic or not) to one increased diagnostic sensitivity to 84%. Conclusion: An alternative criterion requiring two of: i) MRI of the brain with one or more lesions in two of three regions typical for demyelination; ii) the presence of one T2-weighted spinal cord plaque (typical for demyelination); iii) CSFOBs; would increase the diagnostic sensitivity for PPMS.

Primary progressive multiple sclerosis diagnostic criteria: a reappraisal

2009 ◽  
Vol 15 (12) ◽  
pp. 1459-1465 ◽  
Author(s):  
X. Montalban ◽  
J. Sastre-Garriga ◽  
M. Filippi ◽  
Z. Khaleeli ◽  
N. Téllez ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Diagnostic Criteria ◽  
Disease Duration ◽  
Progressive Multiple Sclerosis ◽  
Added Value ◽  
Oligoclonal Bands ◽  
Primary Progressive Multiple Sclerosis ◽  
Primary Progressive ◽  
Mcdonald Criteria ◽  
Relapsing Remitting

The diagnostic criteria used in primary progressive (PP) and relapsing—remitting (RR) multiple sclerosis (MS) show substantial differences. This introduces complexity in the diagnosis of MS which could be resolved if these criteria could be unified in terms of the requirements for dissemination in space (DIS). The aim of this study was to assess whether a single algorithm may be used to demonstrate DIS in all forms of MS. Five sets of RRMS criteria for DIS were applied to a cohort of 145 patients with established PPMS (mean disease duration: 11 years — PPMS-1): C1: Barkhof—Tintoré (as in 2005 McDonald’s criteria); C2: Swanton et al. (as in JNNP 2006); C3: presence of oligoclonal bands plus two lesions (as in McDonald’s criteria); C4 and C5: a two-step approach was also followed (patients not fulfilling C1 or C2 were then assessed for C3). Two sets of PPMS criteria for DIS were applied: C6: Thompson et al. (as in 2001 McDonald’s criteria); C7: 2005 McDonald criteria. A second sample of 55 patients with less than 5 years of disease duration (PPMS-2) was also analysed using an identical approach. For PPMS-1/PPMS-2, fulfilment was: C1:73.8%/66.7%; C2:72.1%/59.3%; C3:89%/79.2%; C4:96%/92.3%; C5:96%/85.7%; C6:85.8%/78.7%; C7:91%/80.4%. Levels of fulfilment suggest that the use of a single set of criteria for DIS in RRMS and PPMS might be feasible, and reinforce the added value of cerebrospinal fluid (CSF) findings to increase fulfilment in PPMS. Unification of the DIS criteria for both RRMS and PPMS could be considered in further revisions of the MS diagnostic criteria.

Literaturstellen/Literatur references

2003 ◽  
Vol 22 (S 04) ◽  
pp. S1-S1
Keyword(s):  
Multiple Sclerosis ◽  
Diagnostic Criteria ◽  
Multiple Sklerose ◽  
Clinical Management ◽  
Symptomatic Treatment ◽  
Progressive Multiple Sclerosis ◽  
Primary Progressive Multiple Sclerosis ◽  
Symptomatische Therapie ◽  
Primary Progressive ◽  
Sozioökonomische Aspekte

MSTKG-Diagnosekriterien und Umsetzung in der Praxis / New MS diagnostic criteria and their clinical managementF. Heidenreich, M. FreidelS2Multiple Sklerose: Pathologie und Regeneration / Multiple sclerosis: pathology and regenerationM. Stangel, H. LassmannS8Prädiktive Marker bei Multipler Sklerose / Predictive markers in multiple sclerosisH. F. Petereit, E. SindernS13Aktueller Therapieüberblick und zukünftige Therapiestrategien derMultiplen Sklerose / Update on recent and future therapeutic strategiesin multiple sclerosisR. Gold, H.-P. HartungS16Therapieansätze bei der Multiplen Sklerose – Lektionen ausfehlgeschlagenen und abgebrochenen Studien / Therapeutical approachesin multiple sclerosis – experiences from failed or terminated trialsH. Wiendl, R. HohlfeldS25Symptomatische Therapie der Multiplen Sklerose / Symptomatic treatment of multiple sclerosisA. Bayas, R. GoldS32Sozioökonomische Aspekte der Multiplen Sklerose / Socioeconomic aspects of multiple sclerosisP. Flachenecker, P. RieckmannS39Die primär chronisch progrediente Multiple Sklerose / The primary progressive multiple sclerosisS. Poser, B. Kitze, A. Bitsch, T. Bogumil, A. Dressel, H. Tumani, F. WeberS43Therapeutisch relevante MS-Forschung – ein Ausblick / Therapeutically relevant MS research – an outlookO. Aktas, K.-P. Wandinger, F. ZippS46Neuropsychologische Aspekte der MS / Neuropsychological aspects in multiple sclerosisP. Calabrese, V. Limmroth, P. Scherer, S. BamborschkeS55

Primary progressive multiple sclerosis: a comparative study of the diagnostic criteria

2007 ◽  
Vol 13 (5) ◽  
pp. 622-625 ◽  
Author(s):  
J. de Seze ◽  
M. Debouverie ◽  
N. Waucquier ◽  
G. Steinmetz ◽  
S. Pittion ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Comparative Study ◽  
Diagnostic Criteria ◽  
Progressive Multiple Sclerosis ◽  
Primary Progressive Multiple Sclerosis ◽  
Primary Progressive ◽  
Mcdonald Criteria

We assessed the different sets of diagnostic criteria for primary progressive multiple sclerosis (PPMS), in order to determine their sensitivity when applied to a cohort of 261 PPMS patients. According to the Thompson criteria, 168 patients (64.4%) had definite PPMS, 84 patients (32.2%) had probable PPMS, and nine patients (3.4%) had possible PPMS; according to the McDonald criteria, 180 patients (69%) had PPMS; according to the revised McDonald criteria, 194 patients (74.3%) had PPMS. Our findings indicate that the revised McDonald criteria are more sensitive than the original McDonald criteria, but less sensitive than the Thompson criteria. Multiple Sclerosis 2007; 13: 622-625. http://msj.sagepub.com

Overview of primary progressive multiple sclerosis (PPMS): similarities and differences from other forms of MS, diagnostic criteria, pros and cons of progressive diagnosis

2004 ◽  
Vol 10 (3_suppl) ◽  
pp. S2-S7 ◽  
Author(s):  
Alan Thompson
Keyword(s):  
Multiple Sclerosis ◽  
Diagnostic Criteria ◽  
Disease Process ◽  
Progressive Multiple Sclerosis ◽  
Primary Progressive Multiple Sclerosis ◽  
Imaging Features ◽  
Primary Progressive ◽  
Relapsing Remitting ◽  
Diagnostic Difficulties ◽  
Pros And Cons

Patients with the primary progressive form of multiple sclerosis (PPMS) have a unique clinical course and demonstrate additional demographic and imaging features, which separate them from the relapsing/remitting form of the condition. Whether these features indicate a fundamental difference in the underlying patho genesis of the condition or simply reflect opposite ends of a clinical spectrum is unclear. What is clear, however, is that this form of MS provides a valuable model of progression, which has the potential to explain this most disabling component of the disease process. The lack of the hallmark relapses and remissions in PPMS poses diagnostic difficulties, some of which have been addressed by recently published diagnostic criteria. Following diagnosis, the need for information, specific to this form of MS, must be recognized and addressed.

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