Update of atypical parkinsonian disorders

Current Opinion in Neurology

Volumn 20, Issue 4, 2007, Pages 434-437

  Litvan, Irene ^a  

^a University of Louisville School of Medicine   (United States)

Author keywords

Animal models; Atypical parkinsonian disorders; Genetics; Therapy

Indexed keywords

BASAL GANGLION; BRAIN DEPTH STIMULATION; CHROMOSOME 17; CLINICAL PRACTICE; DIFFUSION COEFFICIENT; DIFFUSION TENSOR IMAGING; DISEASE CLASSIFICATION; FRONTOTEMPORAL DEMENTIA; GAIT DISORDER; GENETICS; HUMAN; NONHUMAN; PARKINSONISM; PEDUNCULOPONTINE TEGMENTAL NUCLEUS; PHENOTYPE; REVIEW; SACCADIC EYE MOVEMENT;

DIAGNOSIS, DIFFERENTIAL; DIAGNOSTIC IMAGING; HUMANS; PARKINSONIAN DISORDERS;

EID: 34447308211     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/WCO.0b013e32823ecfa7     Document Type: Review

References (21)

1. Litvan I. Recent advances in atypical parkinsonian disorders. Curr Opin Neurol 1999; 12:441-446.
2. Walter U, Behnke S, Eyding J, et al. Transcranial brain parenchyma sonography in movement disorders: state of the art. Ultrasound Med Biol 2007; 33:15-25. State-of-the-art review summarizing the recommendations made by the consensus meeting of the European Society of Neurosonology and Cerebral Hemodynamics on the diagnostic value of transcranial sonogram in parkinsonian neurodegenerative disorders.
3. Paviour DC, Thornton JS, Lees AJ, Jager HR. Diffusion-weighted magnetic resonance imaging differentiates Parkinsonian variant of multiple-system atrophy from progressive supranuclear palsy. Mov Disord 2007; 22:68-74.
4. von Lewinski F, Werner C, Jorn T, et al. T2-weighted MRI in diagnosis of multiple system atrophy: a practical approach for clinicians. J Neurol 2007; 14 March [Epub ahead of print].
5. Rivaud-Pechoux S, Vidailhet M, Brandel JP, Gaymard B. Mixing pro- and antisaccades in patients with parkinsonian syndromes. Brain 2007; 130:256-264.
6. Pittman AM, Fung HC, de Silva R. Untangling the tau gene association with neurodegenerative disorders. Hum Mol Genet 2006; 15 (Spec No 2):R188-R195.
7. Masellis M, Momeni P, Meschino W, et al. Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome. Brain 2006; 129:3115-3123. The authors identify a novel mutation in the progranulin gene that segregates in a family with the corticobasal syndrome, extending the genetic heterogeneity of this syndrome.
8. Benussi L, Binetti G, Sina E, et al. A novel deletion in progranulin gene is associated with FTDP-17 and CBS. Neurobiol Aging 2006; 5 December [Epub ahead of print].
9. Boeve BF, Baker M, Dickson DW, et al. Frontotemporal dementia and parkinsonism associated with the IVS1 + 1G → A mutation in progranulin: a clinicopathologic study. Brain 2006; 129:3103-3114. The authors describe the clinicopathologic findings of the proband of a kindred with frontotemporal dementia with parkinsonism with a novel progranulin gene deletion. Since this mutation blocks the formation of progranulin protein they use the term 'hypogranulinopathies' to classify this new disorder.
10. Neumann M, Sampathu DM, Kwong LK, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006; 314:130-133. The authors identified TDP-43, the key protein that constitutes the frontotemporal lobar degeneration ubiquinated inclusions.
11. Lin IS, Wu RM, Lee-Chen GJ, Shan DE, Gwinn-Hardy K. The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment. Parkinsonism Relat Disord 2007; 13:246-249.
12. Melquist S, Craig DW, Huentelman MJ, et al. Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms. Am J Hum Genet 2007; 80:769-778. Through a pooled genome-wide single nucleotide polymorphism study the authors identified a novel risk locus for PSP on chromosome 11p12-p11 and confirmed its association with the H1 tau haplotype.
13. Zhu X, Babar A, Siedlak SL, et al. LRRK2 in Parkinson's disease and dementia with Lewy bodies. Mol Neurodegener 2006; 1:17.
14. Ozelius LJ, Foroud T, May S, et al. G2019S mutation in the leucine-rich repeat kinase 2 gene is not associated with multiple system atrophy. Mov Disord 2007; 22:546-549.
15. Stefani A, Lozano AM, Peppe A, et al. Bilateral deep brain stimulation of the pedunculopontine and subthalamic nuclei in severe Parkinson's disease. Brain 2007; 24 January [Epub ahead of print]. The authors report significant gait and postural balance benefits after bilateral deep brain stimulation of the pedunculopontine and subthalamic nuclei in six patients with advanced Parkinson's disease and gait disturbances.
16. Benarroch EE. Brainstem respiratory control: substrates of respiratory failure of multiple system atrophy. Mov Disord 2007; 22:155-161.
17. Benarroch EE, Schmeichel AM, Low PA, Parisi JE. Depletion of putative chemosensitive respiratory neurons in the ventral medullary surface in multiple system atrophy. Brain 2007; 130:469-475.
18. Yazawa I, Giasson BI, Sasaki R, et al. Mouse model of multiple system atrophy alpha-synuclein expression in oligodendrocytes causes glial and neuronal degeneration. Neuron 2005; 45:847-859.
19. Halverson RA, Lewis J, Frausto S, et al. Tau protein is cross-linked by transglutaminase in P301L tau transgenic mice. J Neurosci 2005; 25:1226-1233.
20. Murakami T, Paitel E, Kawarabayashi T, et al. Cortical neuronal and glial pathology in TgTauP301L transgenic mice: neuronal degeneration, memory disturbance, and phenotypic variation. Am J Pathol 2006; 169:1365-1375.
21. Menendez J, Rodriguez-Navarro JA, Solano RM, et al. Suppression of Parkin enhances nigrostriatal and motor neuron lesion in mice over-expressing human-mutated tau protein. Hum Mol Genet 2006; 15:2045-2058. This double-transgenic mice overexpressing tau and suppressing parkin leads to a more severe clinical phenotype and pathological degenerative changes than those observed in each of these individual mutations. This study shows that gene-gene interactions can lead to phenotypic changes.