- A case of late-onset OCD developing PLS and FTD. [Journal Article]
- ALAmyotroph Lateral Scler Frontotemporal Degener 2018 Feb 16; :1-3
- We describe a 64-year-old woman, suffering from late-onset obsessive-compulsive disorder (OCD) from the age of 57, who developed dysarthria and dysphagia, spastic diplegic, and proximal muscles weakn...
We describe a 64-year-old woman, suffering from late-onset obsessive-compulsive disorder (OCD) from the age of 57, who developed dysarthria and dysphagia, spastic diplegic, and proximal muscles weakness. Needle electromyography showed no active denervation. Neuropsychological evaluation showed intact cognitive functioning. We diagnosed upper motor neuron disease (MND), with no known genetic correlates. Brain magnetic resonance (MRI) detected bilateral hippocampal atrophy with sclerosis of right hippocampus. 18F-FDG positron emission tomography (PET) showed moderate right temporal cortex thinning. Six months later, motor and behavioral symptoms worsened. Neuropsychological examination revealed long-term memory deficit and executive dysfunction. MRI and PET evidenced severe worsening of atrophy in temporal and frontal lobes. Four years later a definitive diagnosis of primary lateral sclerosis (PLS) and FTD was made. To our knowledge, this is the first report of PLS and FTD with OCD at onset.
- [The Efficacy of Percutaneous Transluminal Angioplasty and Stenting for Traumatic Vertebral Artery Dissection due to Cervical Vertebral Fracture]. [Journal Article]
- NSNo Shinkei Geka 2018; 46(2):133-138
- A 73-year-old man was admitted at another hospital after a traffic accident. The diagnosis was cervical vertebral fracture. Despite conservative treatment, 5 days later he manifested dysarthria due t...
A 73-year-old man was admitted at another hospital after a traffic accident. The diagnosis was cervical vertebral fracture. Despite conservative treatment, 5 days later he manifested dysarthria due to cerebellar infarction and was transferred to our hospital. Imaging studies revealed right vertebral arterial dissection at the level of the axial fracture. We performed percutaneous transluminal angioplasty with stenting to address his subacute vertebral artery dissection prior to treating the cervical vertebral fracture using external fixation. His clinical course was good;ischemia did not recur after stenting and his dysarthria disappeared upon rehabilitation. Cerebral angiograms obtained 6 months later revealed no significant in-stent restenosis. While medical management tends to be the first-line treatment of traumatic vertebral artery dissection, percutaneous transluminal angioplasty with stenting is necessary before treating other traumatic lesions to prevent neurologic events.
- Long-term effects of Lee Silverman Voice Treatment on daily voice use in Parkinson's disease as measured with a portable voice accumulator. [Journal Article]
- LPLogoped Phoniatr Vocol 2018 Feb 15; :1-10
- This study examines the effects of an intensive voice treatment focusing on increasing voice intensity, LSVT LOUD®Lee Silverman Voice Treatment, on voice use in daily life in a participant with Parki...
This study examines the effects of an intensive voice treatment focusing on increasing voice intensity, LSVT LOUD®Lee Silverman Voice Treatment, on voice use in daily life in a participant with Parkinson's disease, using a portable voice accumulator, the VoxLog. A secondary aim was to compare voice use between the participant and a matched healthy control. Participants were an individual with Parkinson's disease and his healthy monozygotic twin. Voice use was registered with the VoxLog during 9 weeks for the individual with Parkinson's disease and 2 weeks for the control. This included baseline registrations for both participants, 4 weeks during LSVT LOUD for the individual with Parkinson's disease and 1 week after treatment for both participants. For the participant with Parkinson's disease, follow-up registrations at 3, 6, and 12 months post-treatment were made. The individual with Parkinson's disease increased voice intensity during registrations in daily life with 4.1 dB post-treatment and 1.4 dB at 1-year follow-up compared to before treatment. When monitored during laboratory recordings an increase of 5.6 dB was seen post-treatment and 3.8 dB at 1-year follow-up. Changes in voice intensity were interpreted as a treatment effect as no significant correlations between changes in voice intensity and background noise were found for the individual with Parkinson's disease. The increase in voice intensity in a laboratory setting was comparable to findings previously reported following LSVT LOUD. The increase registered using ambulatory monitoring in daily life was lower but still reflecting a clinically relevant change.
- Sleep disordered breathing in motor neurone disease. [Review]
- JTJ Thorac Dis 2018; 10(Suppl 1):S86-S93
- Motor neurone disease (MND) is a neurodegenerative disease defined by axonal loss and gliosis of upper and lower motor neurones in the motor cortex, lower brainstem nuclei and ventral horn of the spi...
Motor neurone disease (MND) is a neurodegenerative disease defined by axonal loss and gliosis of upper and lower motor neurones in the motor cortex, lower brainstem nuclei and ventral horn of the spinal cord. MND is currently incurable and has a poor prognosis, with death typically occurring 3 to 5 years after disease onset. The disease is characterised by rapidly progressive weakness leading to paralysis, fasciculations, bulbar symptoms (including dysarthria and dysphagia) and respiratory compromise. Respiratory complications arise as a result of weakness of upper airway (pharyngeal and laryngeal) muscles and respiratory muscles (diaphragm, intercostal and accessory muscles) leading to respiratory failure. Due to early involvement of respiratory muscles in MND, sleep disordered breathing (SDB) occurs at a higher frequency than compared to the general population. SDB usually precedes daytime respiratory symptoms and chronic respiratory failure. It significantly impacts upon patients' quality of life and survival and its presence may predict prognosis. Managing SDB in MND with non-invasive ventilation (NIV) improves quality of life and survival. Early identification and management of SDB in MND patients is therefore crucial. This update will review assessments of respiratory muscle function, types of SDB and the effects of NIV in patients with MND.
- Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion. [Journal Article]
- EJEur J Hum Genet 2018 Feb 14
- Recurrent deletions of a ~600-kb region of 16p11.2 have been associated with a highly penetrant form of childhood apraxia of speech (CAS). Yet prior findings have been based on a small, potentially b...
Recurrent deletions of a ~600-kb region of 16p11.2 have been associated with a highly penetrant form of childhood apraxia of speech (CAS). Yet prior findings have been based on a small, potentially biased sample using retrospectively collected data. We examine the prevalence of CAS in a larger cohort of individuals with 16p11.2 deletion using a prospectively designed assessment battery. The broader speech and language phenotype associated with carrying this deletion was also examined. 55 participants with 16p11.2 deletion (47 children, 8 adults) underwent deep phenotyping to test for the presence of CAS and other speech and language diagnoses. Standardized tests of oral motor functioning, speech production, language, and non-verbal IQ were conducted. The majority of children (77%) and half of adults (50%) met criteria for CAS. Other speech outcomes were observed including articulation or phonological errors (i.e., phonetic and cognitive-linguistic errors, respectively), dysarthria (i.e., neuromuscular speech disorder), minimal verbal output, and even typical speech in some. Receptive and expressive language impairment was present in 73% and 70% of children, respectively. Co-occurring neurodevelopmental conditions (e.g., autism) and non-verbal IQ did not correlate with the presence of CAS. Findings indicate that CAS is highly prevalent in children with 16p11.2 deletion with symptoms persisting into adulthood for many. Yet CAS occurs in the context of a broader speech and language profile and other neurobehavioral deficits. Further research will elucidate specific genetic and neural pathways leading to speech and language deficits in individuals with 16p11.2 deletions, resulting in more targeted speech therapies addressing etiological pathways.
- Putative lung adenocarcinoma with epidermal growth factor receptor mutation presenting as carcinoma of unknown primary site: A case report. [Journal Article]
- MMedicine (Baltimore) 2018; 97(7):e9942
- CONCLUSIONS: Putative lung adenocarcinoma presenting as CUP may have EGFR mutation, and EGFR-TKI therapy may be effective for such malignancy.
- Large vessel stroke as initial presentation of thrombotic thrombocytopenic purpura. [Journal Article]
- BCBMJ Case Rep 2018 Feb 05; 2018
- A 67-year-old right-handed woman presented with dysarthria, left upper extremity weakness and right-sided neglect of 3 hours duration. Imaging of the brain revealed acute right middle cerebral artery...
A 67-year-old right-handed woman presented with dysarthria, left upper extremity weakness and right-sided neglect of 3 hours duration. Imaging of the brain revealed acute right middle cerebral artery stroke; however, tissue plasminogen activator could not be administered due to severe thrombocytopenia. A peripheral smear revealed schistocytes and the patient was treated empirically for thrombotic thrombocytopenic purpura (TTP) with therapeutic plasma exchange. An extensive workup revealed no embolic source or other cause for stroke, and a diagnosis of large vessel infarct secondary to TTP was made. After a prolonged hospital course, the patient had partial neurological recovery and was discharged to a rehabilitation facility. Although transient neurologic deficits due to small vessel occlusions are well described in TTP, large vessel infarct can occur as well. This diagnosis should be considered in patients presenting with concomitant stroke and thrombocytopenia, as untreated TTP is nearly always fatal.
- "Eye of the Tiger" in a Non-Responsive Neuropsychiatric Patient: A Case Report. [Journal Article]
- AMActa Med Iran 2018; 56(1):71-73
- Hallervorden-Spatz syndrome is a rare neurodegenerative disorder with hereditary properties. It usually occurs in young adolescents with extrapyramidal symptoms besides disturbed mental function. In ...
Hallervorden-Spatz syndrome is a rare neurodegenerative disorder with hereditary properties. It usually occurs in young adolescents with extrapyramidal symptoms besides disturbed mental function. In this study, we present a 23-year-old neuropsychiatric patient who primarily misdiagnosed to have conversion disorder. She had 5-year history of progressive dysarthria and generalized abnormal movements. After detecting the pathognomonic sign of "eye of the tiger" diagnosis was confirmed. The patient was discharged. She had satisfactory condition in her follow-up. Such a rare syndrome should be considered in patients with similar presentation, and upon the diagnosis, PKAN2 gene study should be done to detect possible new mutations.
- Spinocerebellar Ataxia Type 31 with Blepharospasm. [Journal Article]
- IMIntern Med 2018 Feb 09
- A 58-year-old man consulted our hospital due to a 2-year history of dysarthria and a 1-month history of blepharospasm. In addition to the ataxic dysarthria and blepharospasm, a neurological examinati...
A 58-year-old man consulted our hospital due to a 2-year history of dysarthria and a 1-month history of blepharospasm. In addition to the ataxic dysarthria and blepharospasm, a neurological examination demonstrated slight ataxia of the trunk and lower limbs. Brain MRI demonstrated atrophy of the upper portion of the cerebellar vermis. Gene analysis established a diagnosis of spinocerebellar ataxia type 31 (SCA31). SPECT with the three-dimensional stereotaxic ROI template (3DSRT) software program demonstrated hyperperfusion in the lenticular nucleus and thalamus. Although the association between SCA31 and blepharospasm in our patient remains unclear, we considered that this combination might be more than coincidental.
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- Spinal primary central nervous system lymphoma: Case report and literature review. [Review]
- JCJ Clin Neurosci 2018 Feb 08
- Primary central nervous system lymphoma (PCNSL) is a very rare tumor of increasing incidence. It is often misdiagnosed due to the unspecific presentation or unavailable biopsy, and results in poor pr...
Primary central nervous system lymphoma (PCNSL) is a very rare tumor of increasing incidence. It is often misdiagnosed due to the unspecific presentation or unavailable biopsy, and results in poor prognosis. PCNSL involved the spinal cord is extremely sparse. Here we report a gentleman presented with one-year history of progressive tremor in the left limbs and slight dysarthria as well as three-month history of paraparesis, tinnitus and insomnia. MR images disclosed the swollen cerebellum and cauda equine, with contrast enhancement in both meninges and nerve roots. The cerebrospinal fluid (CSF) revealed extremely high protein level. Tubercular meningitis was considered and anti-tuberculosis therapy was given for weeks but without relief. With progressive deterioration, the PCNSL was eventually presumed according to positive CSF cytology and exclusion of systemic involvement. However, the patient passed away within days. We then reviewed the current diagnostic methods of PCNSL. The biopsy, as the gold standard for PCNSL diagnosis, is not eligible for all patients suspected PCNSL. The presurgical diagnostic algorithm of PCNSL has been fixed by clinicians and we suggest the early and repeated CSF cytology should be included for definitive diagnosis.