Affiliation: Hadassah University Hospital
- Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish familyAlexander Lossos
The Agnes Ginges Center for Human Neurogenetics, Dept of Neurology, Hadassah University Hospital, POB 12000, Jerusalem 91120, Israel
J Neurol 250:733-40. 2003..Among others, the P301S mutation has been previously reported in three families of European and one of Japanese origin presenting with different clinical phenotypes...
- Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab familiesNizar Elleuch
INSERM, U679, Groupe Hospitalier Pitie Salpetriere, 47 bd de l Hopital, 75013 Paris, France
Neurogenetics 8:307-15. 2007..Our study highlights the phenotypic heterogeneity of SPG15 in which mental retardation or cognitive deterioration, but not all other signs of Kjellin syndrome, are associated with HSP and significantly reduces the SPG15 locus...
- Late-delayed cerebral involvement in systemic non-Hodgkin lymphoma: a second primary tumor or a tardy recurrence?Alexander Lossos
Leslie and Michael Gaffin Center for Neuro Oncology, Hadassah Hebrew University Hospital, Jerusalem, Israel
Cancer 101:1843-9. 2004..The authors attempted to investigate the clonal relation between the late-delayed central nervous system involvement and the original systemic tumor...
- A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12Alexander Lossos
Department of Neurology, Agnes Ginges Center for Human Neurogenetics, Hadassah Hebrew University Hospital, POB 12000, Jerusalem 91120, Israel
Brain 128:42-51. 2005..One of these genes, MYH2, is involved in inclusion body myopathy 3, but no exonic mutations were found by direct sequencing. The molecular basis for this new myopathy remains to be identified...
- Extended phenotype in the transthyretin Tyr77 familial amyloid polyneuropathyAlexander Lossos
Department of Neurology, Agnes Ginges Center for Human Neurogenetics, Jerusalem, Israel
Eur Neurol 53:55-9. 2005..Brain MRI in the proband showed multifocal white matter lesions. These features extend the reported Tyr77 phenotype and support the modifying effect of additional factors on the disease expression...
- Early clinical heterogeneity in choreoacanthocytosisAlexander Lossos
Department of Neurology, Hadassah Hebrew Unviersity Hospital, Jerusalem, Israel
Arch Neurol 62:611-4. 2005..Choreoacanthocytosis (CHAC) is a slowly progressive multisystem disorder with involuntary movements, cognitive decline, behavioral changes, seizures, and polyneuropathy caused by mutations in the VPS13A gene...
- Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneityAlexander Lossos
Department of Neurology, Agnes Ginges Center for Human Neurogenetics, Hadassah Hebrew University Medical Center, Jerusalem 91120, Israel
Arch Neurol 63:756-60. 2006..The locus for HSP-TCC, designated SPG11, was mapped to chromosome 15q13-15 in some of the affected families from Japan, Europe, and North America, spanning an interval of 17.5 megabases (Mb)...
- Phenotypic variability among adult siblings with Sjögren-Larsson syndromeAlexander Lossos
Department of Neurology, Agnes Ginges Center for Human Neurogenetics, Hadassah Hebrew University Medical Center, Jerusalem, Israel
Arch Neurol 63:278-80. 2006..Cerebral proton magnetic resonance spectroscopy in those with SLS demonstrates an abnormal white matter peak at 1.3 ppm, consistent with long-chain fatty alcohol accumulation...
- Leukoencephalopathy with neuroaxonal spheroids presenting as frontotemporal dementiaNetta Levin
Department of Neurology, Ginges Center for Human Neurogenetics, Hadassah Hebrew University Medical Center Ein Kerem Campus, Jerusalem, Israel
Isr Med Assoc J 10:386-7. 2008
- CSF analysis of IgH gene rearrangement in CNS lymphoma: relationship to the disease courseDana Ekstein
Department of Neurology, Hadassah Hebrew University Hospital, Ein Karem, Jerusalem, Israel
J Neurol Sci 247:39-46. 2006..To assess whether clonal IgH genes in CSF of patients with CNS lymphoma correlates with the disease course...
- A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activityMarsha Zeigler
Department of Human Genetics, Hebrew University Hadassah Medical Center, Jerusalem, Israel
J Neurol Sci 339:210-3. 2014..Our findings expand the genetic and phenotypic diversity of AMRF and suggest that low GC activity may present an important biochemical clue to the diagnosis of AMRF. ..
- Extrathymic malignancies in patients with myasthenia gravisNetta Levin
Department of Neurology, The Agnes Ginges Center for Human Neurogenetics, Hadassah Hebrew University Hospital, Jerusalem 91120, Israel
J Neurol Sci 237:39-43. 2005..Data on clinical characteristics of MG patients with extrathymic malignancies and the role of concomitant diseases and their treatment are lacking...
- Cerebellar T2 hyperintensities in a patient with tremorMenachem Sadeh
Department of Neurology, Wolfson Medical Center, Holon, Israel
Neurology 70:578. 2008
- Intradural lumbar varix resembling a tumor: case report of a magnetic resonance imaging-based diagnosisIddo Paldor
Department of Neurosurgery, Hadassah Hebrew University Medical Center, Jerusalem, Israel
Spine (Phila Pa 1976) 35:E864-6. 2010..Review the presentation and diagnosis of a lumbar intradural varix...
- Polyglucosan neurotoxicity caused by glycogen branching enzyme deficiency can be reversed by inhibition of glycogen synthaseOr Kakhlon
Department of Neurology, Hadassah Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel
J Neurochem 127:101-13. 2013..Our data suggest that glycogen branching enzyme repression in glycogenoses can cause pathogenic polyglucosan buildup, which might be corrected by GS inhibition...
- Brain metastases: a rare initial presentation of prostate cancerTal Grenader
Department of Oncology, Hadassah University Hospital, Jerusalem, Israel
Int Urol Nephrol 39:537-9. 2007..The pathological diagnosis of the tumor was consistent with metastatic prostate carcinoma. Further evaluation revealed widespread bony metastases by technetium 99 bone scan and high level of prostate-specific antigen...
- Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndromeSylvain Hanein
Institut National de la Sante et de la Recherche Medicale INSERM, Unité Mixte de Recherche UMR S679, Neurologie et Thérapeutique Expérimentale, Paris, F 75013 France
Am J Hum Genet 82:992-1002. 2008..In cultured cells, spastizin colocalized partially with markers of endoplasmic reticulum and endosomes, suggesting a role in intracellular trafficking...
- Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degenerationGiovanni Stevanin
1INSERM, U679, Universite Pierre et Marie Curie Paris 6, UMR S679, Paris, France
Brain 131:772-84. 2008..In conclusion, our study reveals the high frequency of SPG11 mutations in patients with HSP, a TCC and cognitive impairment, including in isolated patients, and extends the associated phenotype...
- Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish originIngrid Tein
Division of Neurology, Department of Pediatrics, Laboratory Medicine and Pathobiology, Hospital for Sick Children, University of Toronto, Toronto, Canada M5G 1X8
Mol Genet Metab 93:179-89. 2008..This should be screened for in individuals with multicore myopathy, particularly among the Ashkenazim...
- Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosumGiovanni Stevanin
INSERM, UMR679, Federal Institute for Neuroscience Research, Pitie Salpetriere Hospital, Paris, France
Nat Genet 39:366-72. 2007..The identification of the function of the gene will provide insight into the mechanisms leading to the degeneration of the corticospinal tract and other brain structures in this frequent form of ARHSP...