Speech-activated Myoclonus Mimicking Stuttering in a Patient with Myoclonus–Dystonia Syndrome

Background: Acquired neurogenic stuttering has been considered a fairly uncommon clinical occurrence; speech-activated myoclonus is a rare entity that can mimic stuttering and is caused by a wide array of etiologies. Case Report: Here we report a patient with myoclonus–dystonia syndrome (MDS), due to an identified disease-causing mutation, who displayed speech-activated myoclonus mimicking stuttering. Discussion: In MDS, myoclonus has only infrequently been reported to affect speech. This case further expands the spectrum of conditions causing the rare clinical phenomenon of speech-activated myoclonus

Causes and diagnosis of copper deficiency

No abstract.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/57521/1/21050_ftp.pd

Investigations of Physico-Chemical Parameters and its Pollution Implications of Elala River, Mekelle, Tigray, Ethiopia

The purpose of the study was to assess the water quality parameters of Elala River found in Mekelle, Tigray, Ethiopia. Four sampling sites were chosen spatially along the water course to reflect a consideration of all possible activities that are capable of affecting the quality of the river water. The water samples were collected monthly for three consecutive months (March to May, 2014) at the four sampling sites. In order to understand the characteristics of Elala River, principal component analysis (PCA) was utilized using 22 water quality parameters: water temperature, electrical conductivity, turbidity, pH, total solids, total suspended solids, total dissolved solids, total alkalinity, total hardness, calcium, magnesium, chloride, sulfate, nitrate-nitrogen, nitrite-nitrogen, ammonium-nitrogen, total nitrogen, dissolved oxygen, biological oxygen demand, chemical oxygen demand, orthophosphate and total phosphorus. Among the 22 studied water quality parameters: electrical conductivity (904.11 to 2156.11 μS/cm), turbidity (21.07 to 34.99 NTU), total dissolved solids (700.22 to 1328.22 mg/L), total alkalinity (131.85 to 267.26 mg/L), total hardness (198.67 to 478.67 mg/L), chloride (47.32 to 259.43 mg/L), calcium (65.13 to 146.99 mg/L), chemical oxygen demand (16.02 to 32.53 mg/L), sulphate (271.82 to 384.07 mg/L), nitrate-nitrogen (6.82 to 62.38 mg/L), orthophosphate (0.03 to 0.14 mg/L) and total phosphorus (0.04 to 0.19 mg/L) were above the prescribed limit of WHO guidelines for drinking purposes, while all analyzed water quality parameters fall within the FAO standard limit for irrigation purposes. The water is thus not potable for domestic purposes without some forms of physical and chemical treatment while it is useful for agricultural purposes.Keywords: Elala River, Water quality, Correlation Matrix, Principal Component Analysis, Mekelle, Ethiopia

The Allure of High-Risk Rewards in Huntington’s disease

Objectives: Huntington’s disease (HD) is a neurodegenerative disorder that produces a bias toward risky, reward-driven decisions in situations where the outcomes of decisions are uncertain and must be discovered. However, it is unclear whether HD patients show similar biases in decision-making when learning demands are minimized and prospective risks and outcomes are known explicitly. We investigated how risk decision-making strategies and adjustments are altered in HD patients when reward contingencies are explicit. Methods: HD (N=18) and healthy control (HC; N=17) participants completed a risk-taking task in which they made a series of independent choices between a low-risk/low reward and high-risk/high reward risk options. Results: Computational modeling showed that compared to HC, who showed a clear preference for low-risk compared to high-risk decisions, the HD group valued high-risks more than low-risk decisions, especially when high-risks were rewarded. The strategy analysis indicated that when high-risk options were rewarded, HC adopted a conservative risk strategy on the next trial by preferring the low-risk option (i.e., they counted their blessings and then played the surer bet). In contrast, following a rewarded high-risk choice, HD patients showed a clear preference for repeating the high-risk choice. Conclusions: These results indicate a pattern of high-risk/high-reward decision bias in HD that persists when outcomes and risks are certain. The allure of high-risk/high-reward decisions in situations of risk certainty and uncertainty expands our insight into the dynamic decision-making deficits that create considerable clinical burden in HD

Neuroimaging of Vessel Amyloid in Alzheimer's Disease a , b

Despite extensive recent advances in understanding Alzheimer's disease (AD) we are unable to noninvasively establish a definite diagnosis during life and cannot monitor the cerebral deposition of amyloid Β protein (A/Β) in living patients. We evaluated the use of 10H3, a monoclonal antibody Fab targeting AΒ protein 1-28 labeled with Tc-99m. Six subjects with probable AD were studied using single-photon emission computed tomography (SPECT) at times from 0–24 hours following injection. Curves of radioactivity in blood demonstrate a half-life of the injected Fab of 2–3 hours. Images show uptake around the head in the scalp or bone marrow in all subjects. There is no evidence of cerebral uptake of the antibody. Scalp biopsies in all six patients demonstrate diffuse staining with 10H3 of the scalp, a pattern indistinguishable from that found in controls. Evidence of amyloid deposition in the scalp in AD is not seen with other anti-AΒ antibodies, suggesting that 10H3 is cross-reacting with another protein. Further studies with anti-AΒ antibodies will require longer-lived radionuclides to detect cerebral uptake at later tunes after injection to allow for complete clearance from the blood. Afternately, imaging using labeled AΒ itself may provide a means for noninvasive targeting of cerebral amyloid.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/73674/1/j.1749-6632.1997.tb48475.x.pd

Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings

We identified a novel 6.33 Mb deletion of 1q21.3q23.3 (hg18; chr1: 153035245–159367106) in two siblings presenting with blepharophimosis, ptosis, microbrachycephaly, severe psychomotor, and intellectual disability. Additional common features include small corpus callosum, normal birth length and head circumference, postnatal growth restriction, low anterior hairline, upturned nose, bilateral preauricular pits, widely spaced teeth, gingival hypertrophy, left ventricular dilatation with decreased biventricular systolic function, delayed bone age, 5th finger clinodactyly, short 3rd digit, hyperconvex nails, obstructive and central sleep apnea, and bilateral heel contractures. Fluorescence in situ hybridization (FISH) performed in the mother of both children showed an apparently balanced, intrachromosomal insertional translocation of 1q21.3q23.3 to 1q42.12. The sibling recurrence likely arose by a maternal meiotic crossing over on the rearranged chromosome 1 between the deleted region and the insertion. We hypothesize that the decreased cardiac function and contractures may be related to LMNA haploinsufficiency. This case illustrates the importance of FISH when attempting to determine inheritance of a copy‐number variation and emphasize the value of evaluating known haploinsufficiency phenotypes for genes in deleted regions. © 2012 Wiley Periodicals, Inc.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/93664/1/35563_ftp.pd

Novel mental retardation–epilepsy syndrome linked to Xp21.1–p11.4

We evaluated a kindred with X-linked mental retardation and epilepsy. Seven affected males with mild to moderate mental retardation developed seizures (primarily generalized, tonic–clonic, and atonic) that began on average at 6.8 months of age (range, 4 to 14 months). These patients did not have a history of infantile spasms. There were no dysmorphic features. Other than mental retardation, the neurological examination was unremarkable, with exception of 2 affected subjects who had mild generalized rigidity and ataxia. We identified tight linkage to a group of markers on Xp21.1–p11.4. A maximum two-point LOD score of +3.83 at θ = 0 was obtained for markers DXS8090, DXS1069, DXS8102, and DXS8085. This locus spans 7.7cM between DXS1049 and DXS8054 and does not overlap the locus for X-linked West syndrome. The tetraspanin gene, implicated in nonspecific mental retardation, is mapped to this region. We sequenced the tetraspanin coding sequence in subjects with X-linked mental retardation and epilepsy and did not identify disease-specific mutations. The syndrome we describe, designated X-linked mental retardation and epilepsy, is clinically and genetically distinct from X-linked West syndrome and other X-linked mental retardation–epilepsy syndromes.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/34887/1/10051_ftp.pd

Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family

We describe the clinical features of a brother and sister with non–dopa-responsive, childhood-onset, generalized dystonia. The children were born to consanguineous parents, had no family history of neurologic disease, no evidence of structural or metabolic causes of dystonia, and negative testing for the GAG946 deletion mutation in the DYT1 gene. This report supports the existence of a generalized type of dystonia with autosomal recessive inheritance (DYT2). © 2004 Movement Disorder SocietyPeer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/34961/1/20228_ftp.pd

Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia

Hereditary spastic paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative disorders characterized by progressive lower extremity weakness and spasticity. HSP pathology involves axonal degeneration that is most pronounced in the terminal segments of the longest descending (pyramidal) and ascending (dorsal columns) tracts. In this study, we compared spinal cord magnetic resonance imaging (MRI) in 13 HSP patients with four different types of autosomal dominant hereditary spastic paraplegia (SPG3A, SPG4, SPG6, and SPG8) with age-matched control subjects. The cross-section area of HSP subjects at cervical level C2 was 59.42±12.57 mm 2 and at thoracic level T9 was 28.58±5.25 mm 2 . Both of these values were less than in the healthy controls ( p <0.001). The degree of cord atrophy was more prominent in patients with SPG6 and SPG8 who had signs of severe cord atrophy (47.60±6.58 mm 2 at C2, 21.40±2.4 mm 2 at T9) than in subjects with SPG3 and SPG4 (66.0±8.94 mm 2 at C2, p <0.02; 31.75±2.76 mm 2 at T9, p <0.001). These observations indicate that spinal cord atrophy is a common finding in the four genetic types of HSP. Spinal cord atrophy was more severe in SPG6 and SPG8 HSP subjects than in other types of HSP we studied. This may suggest a different disease mechanism with more prominent axonal degeneration in these two types of HSP when compared with HSP due to spastin and atlastin mutations.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/46666/1/234_2005_Article_1415.pd