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JMD : Journal of Movement Disorders

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Volume 3(2); October 2010
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Review Articles
Leucine-Rich Repeat Kinase 2-Linked Parkinson’s Disease: Clinical and Molecular Findings
Udhaya Kumari, Eng-King Tan
J Mov Disord. 2010;3(2):25-31.
DOI: https://doi.org/10.14802/jmd.10008
  • 13,395 View
  • 97 Download
  • 3 Citations
AbstractAbstract PDF

Mutations in Leucine-rich repeat kinase 2 (LRRK2) gene are the most common cause of sporadic and familial late onset Parkinson’s disease (PD). The G2019S common mutation has been identified about 1% of sporadic cases and 4–7% of familial cases. Over 50 variants have since been identified in LRRK2, and at least 7 of these are confirmed to be pathogenic. In addition to pathogenic mutations, several common polymorphisms in the LRRK2 gene (G2385R and R1628P) have been identified that may explain up to 10% of sporadic PD in Asian populations. LRRK2 is a large complex multidomain protein with 2,527-amino-acid and the molecular weight is 286 kDa. LRRK2 multidomain protein consists of a catalytic core domain, kinase domain and a number of putative protein-protein interaction domains. LRRK2 mutations found in PD families, including the G2019S and I2020T mutations show increased intrinsic kinase activity, when assessed with myelin basic protein as substrate. The modification of LRRK2 GTPase and kinase activity affecting residues in the ROC, COR and mitogen-activated protein kinase kinase kinases domains is believed to lead to neuronal cell death, but the pathways involved remain unclear. A number of in vivo models in C. elegans, D. melanogaster and mice have been developed to study the patho/physiological function of LRRK2. Based on current literature, a toxic gain of function in LRRK2 kinase activity is a possible pathophysiologic mechanism and thus inhibition of kinase activity in experimental models offers a potential therapeutic strategy for LRRK2-linked PD.

X-Linked Dystonia Parkinsonism: Clinical Phenotype, Genetics and Therapeutics
Raymond L. Rosales
J Mov Disord. 2010;3(2):32-38.
DOI: https://doi.org/10.14802/jmd.10009
  • 35,963 View
  • 225 Download
  • 21 Citations
AbstractAbstract PDF

The clinical phenotype of X-Linked Dystonia Parkinsonism (XDP) is typically one that involves a Filipino adult male whose ancestry is mostly traced in the Philippine island of Panay. Dystonia usually starts focally in the lower limbs or oromandibular regions, then spreads to become generalized eventually. Parkinsonism sets in later into the disease and usually in combination with dystonia. /DYT3/ and /TAF1/ are the two genes associated with XDP. An SVA retrotransposon insertion in an intron of /TAF1/ may reduce neuron-specific expression of the /TAF1/ isoform in the caudate nucleus, and subsequently interfere with the transcription of many neuronal genes. Polypharmacy with oral benzodiazepines, anticholinergic agents and muscle relaxants leaves much to be desired in terms of efficacy. The medications to date that may appear beneficial, especially in disabling dystonias, are zolpidem, muscle afferent block with lidocaine-ethanol and botulinum toxin type A. Despite the few cases undergoing deep brain stimulation, this functional surgery has shown the greatest promise in XDP. An illustrative case of XDP in a family depicts the variable course of illness, including a bout of “status dystonicus,” challenges in therapy, reckoning with the social impact of the disease, and eventual patient demise. Indeed, there remains some gaps in understanding some phenomenological, genetic and treatment aspects of XDP, the areas upon which future research directions may be worthwhile.

Original Article
Four Cases with Peripheral Trauma Induced Involuntary Movements
Eun Joo Chung, Sang Jin Kim, Won Yong Lee, Jong Seok Bae, Eung Gyu Kim, Sung Hwa Pang
J Mov Disord. 2010;3(2):39-41.
DOI: https://doi.org/10.14802/jmd.10010
  • 8,052 View
  • 49 Download
  • 1 Citations
AbstractAbstract PDF
Background and Purpose

Although peripheral trauma induced movement disorders have been rarely reported, diagnostic criteria for peripherally induced movement disorders (PIMD) have been established. Because preexisting subclinical movement disorders, or secondary gain for compensation and legal purposes are difficult to confirm, differential diagnosis for physicians still remains difficult.

Case Reports

We present four patients developed movement disorders after relatively various intervals after traffic accident. Three patients of them showed tremor and one patient presented propriospinal myoclonus. In this report, we investigate whether peripheral trauma can lead to movement disorders and describe the relationship between peripheral injury and movement disorders in four cases.

Conclusions

Injury was serious enough to develop involuntary abnormal movements with pain and the latency between injury and the onset of movements in all of cases was less than 1 year. Thus, our cases showed temporal and anatomical correlation between injury and the onset of movement disorder, strongly supporting the cause-and-effect relationship by previous diagnostic criteria for peripherally induced movement disorders.

Case Reports
Cardiac 123I-metaiodobenzylguanidine Scintigraphy in a Patient with Familial Parkinsonism with Parkin Gene Mutation
Young-Do Kim, In-Uk Song, Joong-Seok Kim, Sung-Woo Chung, Kwang-Soo Lee
J Mov Disord. 2010;3(2):42-44.
DOI: https://doi.org/10.14802/jmd.10011
  • 11,247 View
  • 49 Download
  • 3 Citations
AbstractAbstract PDF

A decreased cardiac 123I-metaiodobenzylguanidine (123I-MIBG) uptake has been used as a powerful tool to identify Lewy body disease, such as idiopathic parkinson’s disease (IPD). We performed cardiac 123I-MIBG scintigraphy in patient with autosomal recessive juvenile parkinsonism (ARJP) with parkin gene mutation (PARK2). The findings showed normal cardiac 123I-MIBG uptake. Therefore, although the clinical features of ARJP are sometimes quite similar to those of late-onset IPD, cardiac 123I-MIBG scintigraphy may be used as a valuable tool to identify patients with IPD and to distinguish them from patients with other parkinsonian syndromes.

A Case of Juvenile Huntington Disease in a 6-Year-Old Boy
Jun-Sang Sunwoo, Soon-Tae Lee, Manho Kim
J Mov Disord. 2010;3(2):45-47.
DOI: https://doi.org/10.14802/jmd.10012
  • 7,634 View
  • 55 Download
  • 4 Citations
AbstractAbstract PDF

Huntington disease is a neurodegenerative disorder distinguished by the triad of dominant inheritance, choreoathetosis and dementia, usually with onset in the fourth and fifth decades. It is caused by an unstable cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the gene IT15 in locus 4p16.3. Juvenile HD that constitutes about 3% to 10% of all patients is clinically different from adult-onset form and characterized by a larger number of CAG repeats typically exceeding 60. We report a case of a 6-year-old boy with myoclonic seizure and 140 CAG repeats confirmed by molecular genetic analysis.

A Case of Action-Induced Clonus that Mimicked Action Tremors and was Associated with Cervical Schwannoma
Young-Hee Sung, Ki-Hyung Park, Yeung-Bae Lee, Hyeon-Mi Park, Dong-Jin Shin
J Mov Disord. 2010;3(2):48-50.
DOI: https://doi.org/10.14802/jmd.10013
  • 11,802 View
  • 40 Download
AbstractAbstract PDF

Clonus is the rhythmic muscle contraction which usually occurs in patients with lesions involving descending motor pathways. Sometimes, rhythmic oscillation of action induced clonus could be confused to action tremor. We report a case of action induced clonus associated with cervical schwannoma which was misdiagnosed as essential tremor. The patient had spasticity in all limbs with exaggerated tendon reflexes, and passive stretch-induced clonus. Imaging and histological examinations revealed a schwannoma extending from C2 to C7. The lesion was partially removed by surgery. Even though essential tremor is a common disease, clinician have to do sufficient neurologic examination considering differential diagnosis.

Preserved Glucose Metabolism of Deep Cerebellar Nuclei in a Case of Multiple System Atrophy with Predominant Cerebellar Ataxia: F-18 Fluorodeoxyglucose Positron Emission Tomography Study
Oh Dae Kwon, Chang-Seok Ki
J Mov Disord. 2010;3(2):51-53.
DOI: https://doi.org/10.14802/jmd.10014
  • 19,006 View
  • 34 Download
AbstractAbstract PDF

The cerebellar glucose metabolism of multiple system atrophy with predominant cerebellar ataxia (MSA-C) is known to be decreased but is not defined among areas of cerebellum. We encountered a 54-year-old man who developed dizziness and progressive ataxia followed by urinary incontinence and orthostatic hypotension, all of those symptoms progressed relentlessly and the symptoms responded poorly to levodopa therapy. Visual analysis and statistical parametric mapping analysis of F-18 fluorodeoxyglucose positron emission tomography showed hypometabolism of both cerebellar hemisphere, severe at cortical area, and pons. There was clear sparing of deep cerebellar nuclei. Our report, as we know, shows the first case of preserved glucose metabolism of deep cerebellar nuclei relative to cerebellar cortex in an MSA-C patient.

Syndrome of Inappropriate Antidiuretic Hormone Secretion Associated with Pramipexole in a Patient with Parkinson’s Disease
Yoonjae Choi, Jeong Jin Park, Na Young Ryoo, So-Hyun Kim, Changseok Song, Im-Tae Han, Chang-Gi Hong, Choong Kun Ha, Seong Hye Choi
J Mov Disord. 2010;3(2):54-56.
DOI: https://doi.org/10.14802/jmd.10015
  • 25,509 View
  • 94 Download
  • 2 Citations
AbstractAbstract PDF

The syndrome of inappropriate antidiuretic hormone secretion (SIADH) can be caused by a variety of drugs. Dopaminergic drugs might enhance the secretion of the antidiuretic hormone arginine vasopressin by reducing γ-amino butyric acid release through the dopaminergic receptor in supraoptic nucleus. A 75-year-old woman with Parkinson’s disease developed asthenia, delirium, aggravated parkinsonian symptoms, and hypotonic hyponatremia along with the diagnostic criteria for SIADH during dose escalation of pramipexole. After pramipexole withdrawal, these symptoms disappeared, and sodium levels returned to normal values. The serum sodium levels of patients receiving pramipexole should be monitored, especially during dose escalation.


JMD : Journal of Movement Disorders