Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
LBSL

 Contact us
 
Return to database




Prevalence (%) of clinical parameters based on data from 2 references describing 71 individuals







Add new symptom/sign to this disease

Select symptom from list or write it in the box
 Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
Please provide your name and contact information as a reference
Name Institute Phone number Email address


List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Ataxia nervous 100 % 12557294 2014-07-31
Leukodystrophy nervous 100 % 12557294 2014-07-31
Babinski's sign nervous 88 % 12557294 2014-07-31
Spasticity nervous 88 % 12557294 2014-07-31
Lactate accumulation nervous 88 % 12557294 2014-07-31
Pallesthesia nervous 50 % 12557294 2014-07-31
Cognitive deficits nervous 50 % 12557294 2014-07-31
Dysarthria nervous 38 % 12557294 2014-07-31
Hyperactive reflexes nervous 25 % 12557294 2014-07-31
Seizures nervous 25 % 12557294 2014-07-31
Cognitive deficits nervous 19 % 24566671 2014-07-31
Developmental delay nervous 14 % 24566671 2014-07-31
Incontinence nervous 13 % 12557294 2014-07-31
Cerebellar atrophy nervous 13 % 12557294 2014-07-31



List of references:


A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate.
Marjo S van der Knaap, Patrick van der Voorn, Frederik Barkhof, Rudy Van Coster, Ingeborg Krägeloh-Mann, Annette Feigenbaum, Susan Blaser, Johan S H Vles, Peter Rieckmann, Petra J W Pouwels,



Annals of neurology - Feb 2003



Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.
Laura van Berge, Eline M Hamilton, Tarja Linnankivi, Graziella Uziel, Marjan E Steenweg, Pirjo Isohanni, Nicole I Wolf, Ingeborg Krägeloh-Mann, Nils J Brautaset, P Ian Andrews, Brigit A de Jong, Malak al Ghamdi, Wessel N van Wieringen, Bakhos A Tannous, Esther Hulleman, Thomas Würdinger, Carola G M van Berkel, Emiel Polder, Truus E M Abbink, Eduard A Struys, Gert C Scheper, Marjo S van der Knaap, ,



Brain : a journal of neurology - Apr 2014