- Ca2+ signaling and spinocerebellar ataxia. [Review]
- BBBiochim Biophys Acta 2018 May 16
- Spinocerebellar ataxia (SCA) is a neural disorder, which is caused by degenerative changes in the cerebellum. SCA is primarily characterized by gait ataxia, and additional clinical features include n...
Spinocerebellar ataxia (SCA) is a neural disorder, which is caused by degenerative changes in the cerebellum. SCA is primarily characterized by gait ataxia, and additional clinical features include nystagmus, dysarthria, tremors and cerebellar atrophy. Forty-four hereditary SCAs have been identified to date, along with >35 SCA-associated genes. Despite the great diversity and distinct functionalities of the SCA-related genes, accumulating evidence supports the occurrence of a common pathophysiological event among several hereditary SCAs. Altered calcium (Ca2+) homeostasis in the Purkinje cells (PCs) of the cerebellum has been proposed as a possible pathological SCA trigger. In support of this, signaling events that are initiated from or lead to aberrant Ca2+ release from the type 1 inositol 1,4,5-trisphosphate receptor (IP3R1), which is highly expressed in cerebellar PCs, seem to be closely associated with the pathogenesis of several SCA types. In this review, we summarize the current research on pathological hereditary SCA events, which involve altered Ca2+ homeostasis in PCs, through IP3R1 signaling.
- What does it take to stress a word? Digital manipulation of stress markers in ataxic dysarthria. [Journal Article]
- IJInt J Lang Commun Disord 2018 May 18
- CONCLUSIONS: The results highlight the potential for improvement of stress production in speakers with motor speech disorders. The fact that individual parameter manipulation is as effective as combining them will facilitate the therapeutic process considerably, as will the result that amplification at lower levels than seen in typical speakers is sufficient. The difference in results across utterance sets highlights the need to investigate the underlying error pattern in order to select the most effective compensatory strategy for clients.
- Outpatient Interventions That May Enhance the Care of a Patient with Co-existing Moyamoya and Down Syndromes. [Journal Article]
- CCureus 2018 Mar 16; 10(3):e2336
- Moyamoya vasculopathy is a condition of chronic, progressive occlusion of the distal internal carotid arteries and the Circle of Willis. The resultant ischemia produces compensatory angiogenesis and ...
Moyamoya vasculopathy is a condition of chronic, progressive occlusion of the distal internal carotid arteries and the Circle of Willis. The resultant ischemia produces compensatory angiogenesis and the growth of a network of collateral blood vessels, which on angiography resemble a "puff of smoke" or "moyamoya" in Japanese. The objective of this case report is to describe the clinical course of a patient with Down and moyamoya syndromes and to enlighten clinicians about strategies that can be taken to enhance the care of similar patients. A 55-year-old African American female presented to the hospital with complaints of headache, vision loss, dysarthria, and ataxia. She had a past medical history of Down syndrome and a stroke with residual lower extremity weakness. At her baseline, the patient was able to perform her activities of daily living but required assistance with independent activities of daily living. Computed tomography of the brain showed hypodense areas at the right occipital, temporal, and parietal lobes. Computed tomography angiography of the head and neck identified occlusion bilaterally at the supraclinoid internal carotid arteries and right posterior cerebral artery; there was collateral arterial flow within the right middle cerebral and anterior cerebral arteries that was consistent with moyamoya vasculopathy. Patients with Down syndrome experience premature accelerated aging and suffer from comorbidities seen in geriatric patients by the time they reach their 40s. Patients with moyamoya vasculopathy experience neurocognitive and neuropsychiatric deficits that correspond to the regions of the brain that are affected. This patient with Down and moyamoya syndromes had impaired neurocognitive and functional status, and we believe that she would have benefited from receiving a comprehensive geriatric assessment and neuropsychiatric testing.
- High Titer of Circulating Antiglutamic Acid Decarboxylase Antibodies in a Patient with Cerebellar Ataxia and Type 1 Diabetes. [Journal Article]
- CMConn Med 2017; 81(3):161-164
- A 24-year-old female who was recently diagnosed with Type 1 diabetes mellitus (TiD) presented with a five-year history of visible gait disturbance and slurred speech. Her neurologic examination was r...
A 24-year-old female who was recently diagnosed with Type 1 diabetes mellitus (TiD) presented with a five-year history of visible gait disturbance and slurred speech. Her neurologic examination was remarkable for dysarthria, bilateral nystagmus, dysdiadochokinesia, finger-nose incoordination, heel-knee incoordination, and ataxic gait. A brain MRI disclosed diffuse cerebellar atrophy. Her serum antiglutamic acid decarboxylase (GAD) antibody titer was elevated. Antinuclear antibody (ANA) test was positive with atiterofl:2560 and a speckledpattern. Genetictests for inherited ataxia, including Friedreich ataxia, were negative for mutations. Her cerebrospinal fluid (CSF) analysis revealed oligoclonal bands and she had a positive CSF GAD65 antibody. A diag- nosis of GAD antibody-induced cerebellar ataxia was considered. She developed GAD autoimmune antibody positive TiD during the course ofher dis- ease. GAD antibody-associated cerebellar ataxia is a rare entity, however it should be considered as a possibility in patients with associated autoimmune disease and positive anti-GAD antibody.
- Expiratory and phonation times as measures of disease severity in patients with Multiple Sclerosis. A case-control study. [Journal Article]
- MSMult Scler Relat Disord 2018 Apr 21; 23:27-32
- CONCLUSIONS: As the expiratory times were significantly correlated with the EDSS scores, they could be used to measure the severity of MS and to monitor its progression.
- The first case of bacillus Calmette-Guérin-induced small-vessel central nervous system vasculitis. [Review]
- CRClin Rheumatol 2018 May 09
- To present an unrecognized vascular complication of bacillus Calmette-Guérin (BCG) therapy administered for superficial bladder carcinoma. We also review the potential mimickers for primary angiitis ...
To present an unrecognized vascular complication of bacillus Calmette-Guérin (BCG) therapy administered for superficial bladder carcinoma. We also review the potential mimickers for primary angiitis of the central nervous system (PACNS) as well as complications of intravesical BCG therapy. An 89-year-old Caucasian man with a history of relapsing high-grade bladder carcinoma treated with intravesical BCG presented with recurring episodes of right upper limb paresthesia with clumsiness and dysarthria. Magnetic resonance imaging of the head revealed multiple predominantly left-sided frontotemporal micronodular peri-vascular lesions. Left frontal lobe biopsy showed non-necrotizing granulomatous vasculitis. Ziehl staining was negative. Initially, he was treated for PACNS but his symptoms relapsed during every attempt to taper the corticosteroids. Six months later, he developed bilateral mycobacterial endophthalmitis, caused by Mycobacterium bovis. Brain biopsy was reviewed and confirmed the presence of perivascular mycobacteria. A retrospective diagnosis of BCG-induced central nervous system vasculitis was made and he was treated with high-dose corticosteroids, moxifloxacin, isoniazid, ethambutol, and rifampicin. BCG is a live attenuated form of Mycobacterium bovis widely used as tuberculosis vaccination and intravesical therapy for superficial forms of bladder cancer. Systemic complications affect roughly 5% of patients and can manifest months or years after the last instillation. Cases of endophthalmitis, meningitis, aortitis, or mycotic aneurysms have been described, but no reports of CNS vasculitis have been found. In disseminated forms of BCG infections, referred to as BCGitis, histopathology usually reveals granulomatous inflammation. Mycobacterial cultures are often negative, making this a diagnostic challenge. This is the first documented case of BCG-induced small-vessel CNS vasculitis. Mycobacterium bovis infection is rare and findings are often nonspecific, making the diagnosis very difficult. Other infectious and non-infectious causes must be ruled out appropriately before considering this entity.
- Clinical management of Friedreich's Ataxia: a report of two cases. [Journal Article]
- SCSpinal Cord Ser Cases 2018; 4:38
- Friedreich's ataxia (FDRA) is the most common autosomal recessive, early-onset ataxia. FDRA is a progressive neurodegenerative disease that mainly affects the posterior (dorsal) columns of the spinal...
Friedreich's ataxia (FDRA) is the most common autosomal recessive, early-onset ataxia. FDRA is a progressive neurodegenerative disease that mainly affects the posterior (dorsal) columns of the spinal cord resulting in sensory ataxia. It manifests in initial symptoms of poor coordination and gait disturbance.
- Superficial Temporal Artery-middle Cerebral Artery Anastomosis for Ischemic Stroke due to Dissection of the Intracranial Internal Carotid Artery with Middle Cerebral Artery Extension. [Journal Article]
- NCNMC Case Rep J 2018; 5(2):39-44
- A 31-year-old man presented with a sudden-onset headache, right hemiparesis, and dysarthria on day 0 and was diagnosed with acute ischemic stroke due to dissection of the left intracranial internal c...
A 31-year-old man presented with a sudden-onset headache, right hemiparesis, and dysarthria on day 0 and was diagnosed with acute ischemic stroke due to dissection of the left intracranial internal carotid artery with middle cerebral artery extension. His symptoms progressed despite the institution of treatment, suggesting progression of the dissection. On day 5 after symptom onset, the patient underwent superficial temporal artery-middle cerebral artery anastomosis. No new ischemic stroke event occurred after surgery. Cerebral angiography performed 6 months after surgery showed spontaneous resolution of the dissection. The patient recovered to a modified Rankin Scale score of 2 and was able to return to work. The results of the present case suggest that superficial temporal artery-middle cerebral artery anastomosis is an effective treatment for ischemic stroke due to dissection of the intracranial internal carotid artery with middle cerebral artery extension.
- A novel homozygous NDRG1 mutation in a Chinese patient with Charcot-Marie-Tooth disease 4D. [Journal Article]
- JCJ Clin Neurosci 2018 Apr 30
- Charcot-Marie-Tooth disease 4D (CMT4D) is characterized by severe peripheral neuropathy and deafness. It is caused by mutations in the N-myc downstream-regulated gene 1 (NDRG1). We report a Chinese m...
Charcot-Marie-Tooth disease 4D (CMT4D) is characterized by severe peripheral neuropathy and deafness. It is caused by mutations in the N-myc downstream-regulated gene 1 (NDRG1). We report a Chinese man with a homozygous mutation c.675C > T of NDRG1 that resulted in Q185X, representing the third known CMT4D patient of non-European ancestry. The patient presented with a 15-year-long history of progressive limb weakness accompanied by hearing loss and dysarthria. There was abnormal differentiation and increased interpeak latencies in brainstem auditory evoked potentials. Compound muscle action potentials (CMAP) of the peripheral nerves were not elicited in distal segments, while prolonged distal latencies and decreased CMAP were present in proximal nerves. A mild enlargement of the lateral ventricles showed in brain magnetic resonance imaging studies. Q185X of NDRG1 is a novel mutation with CMT4D, which are demonstrated in Asian population. Q185X of the NDRG1 expands the clinical and mutational spectrum of CMT4D.
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- A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352⁎)] Causing Episodic Ataxia Type 2. [Journal Article]
- CRCase Rep Neurol Med 2018; 2018:5802650
- Episodic ataxia is a heterogenous group of uncommon neurological disorders characterised by recurrent episodes of vertigo, dysarthria, and ataxia for which a variety of different genetic variations h...
Episodic ataxia is a heterogenous group of uncommon neurological disorders characterised by recurrent episodes of vertigo, dysarthria, and ataxia for which a variety of different genetic variations have been implicated. Episodic ataxia type two (EA2) is the most common and also has the largest number of identified causative genetic variants. Treatment with acetazolamide is effective in improving symptoms, so accurate diagnosis is essential. However, a large proportion of patients with EA2 have negative genetic testing. We present a patient with a typical history of EA2 who had a novel variant in the CACNA1A gene not previously described. Report of such variations is important in learning more about the disease and improving diagnostic yield for the patient.