Emilia Gatto

Familial hemifacial spasm

We present a family in which hemifacial spasm involving in all cases the left side of the face occurred in five persons in three generations. Blink reflexes recorded in two cases demonstrated an unexpected R1 component on the affected side during stimulation of the contralateral side.

Ethnic origin and extrapyramidal signs in an Argentinean spinocerebellar ataxia type 10 family.

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disease caused by an expansion of an intronic ATTCT repeat in the ATXN10 gene on 22q13.3.1 Pathogenic alleles have 800 to 4,500 ATTCTs (normal alleles 10 to 29).1,2 Whereas Mexican SCA10 families showed progressive ataxia associated with seizures, polyneuropathy, pyramidal signs, and cognitive and neuropsychiatric impairment,3,4 Brazilian SCA10 families uniformly showed pure cerebellar ataxia.5 We describe clinical and molecular findings in two affected members from an Argentinean family with SCA10. ### Methods. With informed consent, we evaluated three siblings and their mother from an Argentine family with Spanish and Amerindian ancestries (figure, A). The pedigree was extended to deceased members based on the information obtained from the relatives. The analysis of the ATTCT repeated region in the SCA10 gene was performed by PCR, repeat-primed PCR, and Southern blot analyses as described elsewhere.1 Figure The Argentinean family with spinocerebellar ataxia type 10 (SCA10) (A) Pedigree of the family. A number in brackets is the age at onset. Two numbers separated by a diagonal line in parentheses are ATTCT repeat numbers. An arrow …

Parkinsonism as a manifestation of multiple sclerosis

We describe a 48‐year‐old patient, with a diagnosis of relapsing–remitting multiple sclerosis, who presented to our service with a parkinsonian syndrome that markedly improved after corticosteroid treatment. To the best of our knowledge, only 12 cases of parkinsonism have been reported from 1970 to the present, of which only 8 seemed secondary to MS, i.e., those presenting conclusive imaging evidence or unequivocal response to corticosteroids.

Low doses of topiramate are effective in essential tremor: a report of three cases.

We here report on 3 patients with essential tremor, otherwise unresponsive to pharmacological treatment, who greatly benefited from low doses of topiramate (50 mg/d). No side effects were observed and improvement was sustained during a mean of 7 months (range 3-12 months) follow up. Our results suggest that topiramate titration should be performed gradually, so as not to neglect cases responsive to low doses.

Dopa-responsive dystonia masquerading as idiopathic kyphoscoliosis

A 19-year-old girl with a long-standing history of kyphoscoliosis misdiagnosed as idiopathic was offered corrective surgery on several occasions but fortunately refused, since neurological examination later found evidence of mild dystonic posturing in the neck and right leg. Symptoms worsened toward evening but improved with rest. Treatment with low doses of levodopa led to total remission within a month. Our case illustrates that dopa-responsive dystonia can manifest spinal curvature as the major symptom and warrants its inclusion in the differential diagnoses of idiopathic kyphoscoliosis.

Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations.

More than 1,000 mutations mapping to 60 different loci have been recognized as the cause of hereditary ataxias. However, almost 50% of the cases are still genetically uncharacterized, with etiology remaining to be identified.1 Diagnosis and research in rare diseases such as ataxia has been significantly improved with the recent availability of next-generation sequencing technologies.2 In order to expand the phenotype recently described in ataxia due to STUB1 mutations and to illustrate the utility of clinical genomics in the diagnosis of ataxias, we present a 23-year-old patient who had ataxia plus myoclonus in whom exome sequencing revealed novel compound heterozygous mutations in the STUB1 gene.

The LRRK2 G2019S mutation in a series of Argentinean patients with Parkinson's disease: clinical and demographic characteristics.

OBJECTIVES To determine clinical characteristics and frequency of leucine-rich repeat kinase 2 gene (LRRK2) mutations in a cohort of patients with Parkinsons disease (PD) from Argentina. BACKGROUND Variation in the LRRK2 gene represents the most common genetic determinant of PD, only few data are available from Latin-America. DESIGN/METHODS Informed consent was obtained and all studies were approved by the Institutional Review Boards. Fifty five consecutive PD patients were recruited. A structured interview and neurological examination were used to collect demographic and clinical information. Blood samples were obtained and DNA extracted from patient venous blood. All LRRK2 exons from 25 exon to 51 exon were screened in all patients. RESULTS Clinical and molecular data of 55 patients with PD were analyzed. Mean age was 68.8±10.6 years. Jewish and Basque ancestries were found positive in 9 and 7 patients, respectively; family history of PD was identified in 16 patients. The G2019S mutation was present in 3 Ashkenazi Jewish subjects (5.45%); all of them reported family history of PD in first-degree relatives. Although Argentina possesses one of the most important Basque communities outside Spain, non R1414G mutation was identified in this cohort. Eleven single polymorphisms (SNP) were identified in this cohort. The mean age at onset was higher in G2019S mutation carriers than non-carriers (66.67 vs 58.78 years). Asymmetrical tremor as initial symptom and non-motor symptoms occurred at similar frequencies in both groups. The G2019S mutation carriers showed a non significant increase in dyskinesias, and 2/3 developed Dopamine Dysregulation Syndrome and visual hallucinations. Systemic disorder identified in G2019S mutation carriers included: celiac disease, hypothyroidism, Hashimotos Thyroiditis and arterial hypertension. CONCLUSIONS The prevalence of LRRK2 G2019S mutation in this Argentinean cohort was similar to other international series, with a higher prevalence in Ashkenazi Jewish. The phenotype was indistinguishable from patients with idiopathic PD. Interestingly, we identified immune mediated disorders in two PD patients carrying the G2019S mutation. Within this context, recent studies have identified full-length LRRK2 as a relatively common constituent of many cell types in the immune system including human peripheral blood mononuclear cells. Nevertheless, a casual association could not be excluded and the analysis of more extensive series is required.

Vascular hemichorea/hemiballism and topiramate: Clinical/Scientific Notes

Although vascular hemichorea/hemiballism (HC/HB) has been reported to be self‐limited, in some cases, it can be irreversible and severely disabling. The standard treatment includes typical and atypical neuroleptics and GABA‐mimetic drugs. Topiramate is a new antiepileptic drug possessing a complex mechanism of action, including the enhancement of GABA‐mediated inhibition. We describe a 71‐year‐old patient with HC/HB who markedly improved after topiramate treatment.

Unusual phenotypic expression of the DYT1 mutation

Highly variable phenotype expression has long been recognized in DYT1 carrier patients. We report here an Ashkenazi-Jewish woman who carried a DYT1 mutation and developed a predominant unilateral myoclonic-dystonia (MD) displaying a fluctuating course. The present case is the second supporting the variability of DYT1 phenotype and further illustrates its ability to mimic the MD syndrome.

Kleptomania, an unusual impulsive control disorder in Parkinson's disease?

Over the last decade, impulse control disorders (ICDs) have emerged as an iatrogenic complication associated with dopaminergic replacement therapy (DRT) in Parkinsons disease (PD), with an estimated prevalence ranging between 6.1 and 14% [1]. The Diagnostic Statistical Manual of Mental Disorders, text revision (DSM-IV TR), defines ICD as an heterogeneous group of psychiatric disorders characterized by a “failure to resist an impulse, drive, or temptation to perform an act that is harmful to the person or to others” [2]. Pathological gambling, compulsive shopping, hypersexuality, and compulsive eating are the most prevalent ICDs reported in PD. However, only a subset of patients with PD is susceptible to developing ICDs. In fact, specific dopamine agonist drugs, with a higher binding affinity of Dopamine D3 receptors (DRD3), predominantly expressed in ventral striatum, may lead to the development of ICDs. Other additional risk factors include young onset of PD, previous history of alcohol or illicit drug abuse, depression, impulsivity and obsessiveecompulsive personality traits [1]. Kleptomania, an under-recognized and disabling ICD (with significant psychological, social and legal repercussions), is characterized according to the DSM-IV TR sets by: 1) recurrent failure to resist impulses to steal objects that are not needed for personal use or for their monetary value; 2) increasing sense of tension immediately before committing the theft; 3) pleasure, gratification, or relief at the time of committing the theft; 4) the stealing is not committed to express anger or vengeance and is not in response to a delusion or a hallucination; and 5) the stealing is not better accounted for by conduct disorder, a manic episode, or antisocial personality disorder not elsewhere specified [2]. Kleptomania in PD has been reported only as anecdotal in two cases [3,4]. We report a 68-year-oldwomanwith a 14-yearhistory of PDwho began with tremor on the right arm. Her personal history was relevant for arterial blood hypertension and WolffeParkinsoneWhite Syndrome. A sister of her grandmother also suffered PD. In May 2008, neurological examination showed Parkinsonian symptoms characterized by tremor and rigidity predominantly on