Impact of disease duration on functional status of patients with spinocerebellar ataxia type 2

<div><p>ABSTRACT Objective: To correlate disease duration in spinocerebellar ataxia type 2 (SCA2) with disease severity, balance and functionality. Method: Sixteen SCA2 patients were analyzed for: disease duration, disease severity (SARA score), balance (Berg balance scale score) and functionality (FIM and Lawton scores). Results: Greater severity was correlated with worse functionality (Lawton: r = −0.0561, FIM: r = −0.6402) and balance (r = −0.7188). Longer disease duration was correlated with greater severity (p = 0.0002) and reduced functionality (FIM: p = 0.005; Lawton: p = 0.0402) and balance (p = 0.0036). A year increase in disease duration corresponded to a 0.8-point increase on the SARA scale, a 1.38-point decrease in FIM score, a 2.30-point decrease on the Berg balance scale and a 0.45-point decrease on the Lawton scale. Conclusion: Longer disease duration in this series of SCA2 patients was correlated with greater disease severity, worse balance and greater functional dependency.</p></div

Charles Miller Fisher: the 65th anniversary of the publication of his groundbreaking study “Transient Monocular Blindness Associated with Hemiplegia”

<div><p>ABSTRACT Charles Miller Fisher is considered the father of modern vascular neurology and one of the giants of neurology in the 20th century. This historical review emphasizes Prof. Fisher's magnificent contribution to vascular neurology and celebrates the 65th anniversary of the publication of his groundbreaking study, “Transient Monocular Blindness Associated with Hemiplegia.”</p></div

Otoneurological findings prevalent in hereditary ataxias

<div><p>ABSTRACT Objective To describe and compare the vestibular findings most evident among the hereditary ataxias, as well as correlate their clinical features with the nervous structures affected in this disease. Methods Seventy-five patients were evaluated and underwent a case history, otorhinolaryngological and vestibular assessments. Results Clinically, the patients commonly had symptoms of gait disturbances (67.1%), dizziness (47.3%), dysarthria (46%) and dysphagia (36.8%). In vestibular testing, alterations were predominantly evident in caloric testing (79%), testing for saccadic dysmetria (51%) and rotational chair testing (47%). The presence of alterations occurred in 87% of these patients. A majority of the alterations were from central vestibular dysfunction (69.3%). Conclusion This underscores the importance of the contribution of topodiagnostic labyrinthine evaluations for neurodegenerative diseases as, in most cases, the initial symptoms are otoneurological; and these evaluations should also be included in the selection of procedures to be performed in clinical and therapeutic monitoring.</p></div

The distribution of SCA10 in the American continents and the proposed dispersal pattern of the mutation.

<p>Possible dispersal patterns of Native American and Amerindian populations as they began entering the Americas ∼15,000 years ago are shown as solid blue lines. Asterisks indicate countries where SCA10 patients have documented ancestral ties.</p

Haplotype analysis of single nucleotide polymorphisms (SNPs) surrounding the SCA10 locus in the Sioux SCA10 patient.

&<p>SNPs used in this study were originally studied in Almeida et al <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0081342#pone.0081342-Almeida1" target="_blank">[14]</a>. †Distance of the SNP is relative to the SCA10 expansion and is expressed in base pairs. Locations upstream and downstream of the SCA10 expansion are denoted by negative and positive values, respectively. *, The common disease haplotype of Mexican and Brazilian families in our SCA10 cohort of 31 families <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0081342#pone.0081342-McFarland1" target="_blank">[29]</a>. ?The “SCA10 haplotype” originally described in Almeida et al <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0081342#pone.0081342-Almeida1" target="_blank">[14]</a>. NR, not reported by Ameida et al <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0081342#pone.0081342-Almeida1" target="_blank">[14]</a>, although these SNPs are mentioned by this study. ^$, “C” allele segregates with SCA10 expansion. No additional sequence changes were seen outside of the SNPs reported.</p

Southern blot analysis of the SCA10 ATTCT repeat expansion in our Sioux patient with SCA10.

<p>Lane 1: positive control, 2300 repeats (genomic DNA from SCA10 somatic cell hybrid line (SCH)) <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0081342#pone.0081342-Wakamiya1" target="_blank">[30]</a>; Lane 2: no DNA control; Lane 3: positive control, 800 repeats (genomic DNA from SCA10 SCH); Lane 4: negative control (genomic DNA from normal control SCH); Lane 5: DNA from Sioux SCA10 patient.</p

Botulinum toxin for hereditary spastic paraplegia: effects on motor and non-motor manifestations

<div><p>ABSTRACT Motor and non-motor manifestations are common and disabling features of hereditary spastic paraplegia (HSP). Botulinum toxin type A (Btx-A) is considered effective for spasticity and may improve gait in these patients. Little is known about the effects of Btx-A on non-motor symptoms in HSP patients. Objective To assess the efficacy of Btx-A on motor and non-motor manifestations in HSP patients. Methods Thirty-three adult patients with a clinical and molecular diagnosis of HSP were evaluated before and after Btx-A injections. Results Mean age was 41.7 ± 13.6 years and there were 18 women. Most patients had a pure phenotype and SPG4 was the most frequent genotype. The Btx-A injections resulted in a decrease in spasticity at the adductor muscles, and no other motor measure was significantly modified. In contrast, fatigue scores were significantly reduced after Btx-A injections. Conclusion Btx-A injections resulted in no significant functional motor improvement for HSP, but fatigue improved after treatment.</p></div