Background: Mutations in the genes PRKN and LRRK2 are the most frequent known genetic lesions among Parkinson's disease patients. We have previously reported that in the Portuguese population the LRRK2 c.6055G > A; p.G2019S mutation has one of the highest frequencies in Europe.

Background. The mutation 9185T>C in ATP6 gene, associated with Leigh syndrome, was reported in only few families. Motor neuron disease (MND), both clinically and electrophysiologically, was not previously described in association with this mutation. Case Report. 33-year-old male, with family history of mitochondrial disease, presented with cognitive impairment, exercise intolerance, and progressive muscle weakness. Examination revealed global hypotonia, and proximal tetraparesis, without atrophy or fasciculation, pyramidal signs, or sensory symptoms. The laboratory findings revealed an increase of lactate and lactate/pyruvate ratio; electromyogram showed chronic neurogenic compromise; muscle biopsy was suggestive of spinal muscular atrophy and mitochondriopathy; genetic study of SMN1 was negative but detected a homoplasmic mutation 9185T>C in ATP6 gene. His younger sister, with the same mutation, had cognitive impairment, ataxia, and muscle weakness. EMG showed axonal peripheral neuropathy. Conclusion. This case is unique because of the benignity and the coexistence of clinical, neurophysiological, and pathological findings suggestive of MND that, although described in mitochondrial disease, have not yet been reported in association with 9185T>C mutation. The present case contributes to the expansion of the phenotypic expressions of this particular mutation.

Huntington's disease (HD) is an inherited, progressive, and neurodegenerative neuropsychiatric disorder caused by the expansion of cytosine-adenine-guanine (CAG) trinucleotide in Interested Transcript (IT) 15 gene on chromosome 4. This pathology typically presents in individuals aged between 30 and 50 years and the age of onset is inversely correlated with the length of the CAG repeat expansion. It is characterized by chorea, cognitive deficits, and psychiatric symptoms. Usually the psychiatric disorders precede motor and cognitive impairment, Major Depressive Disorder and anxiety disorders being the most common presentations. We present a clinical case of a 65-year-old woman admitted to our Psychiatric Acute Unit. During the 6 years preceding the admission, the patient had clinical assessments made several times by different specialties that focused only on isolated symptoms, disregarding the syndrome as a whole. In the course of her last admission, the patient was referred to our Neuropsychiatric Team, which made the provisional diagnosis of late-onset Huntington's disease, later confirmed by genetic testing. This clinical vignette highlights the importance of a multidisciplinary approach to atypical clinical presentations and raises awareness for the relevance of investigating carefully motor symptoms in psychiatric patients.

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Introduction.Camptocormia is an extreme flexion of the toracolumbar spine that exacerbates by walking and is relieved in the supine position. It is described with increasing frequency in association with Parkinson disease (PD). Its pathogenesis remains unclear. One of the hypotheses proposed defends that when associated with PD probably it is a focal action dystonia of the paraspinal muscles. Dystonia may be accompanied of a "geste antagoniste". It is a kind of trick that enables the patient to alleviate dystonic posture. We present two cases in which the patients use sensory tricks to alleviate their posture during gait. Case Reports. Patient 1: A 74-year-old woman, with a 2-year of PD. Clinical examination disclosed parkinsonian signs and camptocormia. She was able to partially overcome it by pushing her hands against her thighs. Patient 2: A 80-year-old woman, with a 1-year probable PD. Neurological examination revealed postural instability, freezing gait and camptocormia that partially remits when she pushes a bar at the level of her waist. Conclusions. The particularity of these cases is that patients are able to improve camptocormia during gait by specific tricks. This clinical improvement supports the hypothesis that camptocormia in PD is a focal dystonia of the paraspinal muscles.