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Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13.

Subramony SH, Advincula J, Perlman S, Rosales RL, Lee LV, Ashizawa T, Waters MF - Cerebellum (2013)

Bottom Line: The p.Arg420His allelic form of spinocerebellar ataxia type 13 has been reported in a large Filipino kindred, as well as three European index cases, one with an affected offspring.Haplotype analysis has confirmed independent mutational events.However, a comprehensive phenotypic description has yet to be published on SCA13(p.Arg420His).

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology, University of Florida College of Medicine, Box 100296, Gainesville, FL, 32610, USA.

ABSTRACT
The p.Arg420His allelic form of spinocerebellar ataxia type 13 has been reported in a large Filipino kindred, as well as three European index cases, one with an affected offspring. Haplotype analysis has confirmed independent mutational events. All individuals share adult-onset, predominantly cerebellar signs and a slowly progressive course. However, a comprehensive phenotypic description has yet to be published on SCA13(p.Arg420His). In this study, we present the results of a detailed neurological clinical and diagnostic testing on 21 mutation-positive members of a four-generation Filipino family to further define this disease, aiding diagnosis and prognosis.

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Related in: MedlinePlus

MR T1 midline sagittal and T2 axial sequences (inset) suggest progressive cerebellar atrophy with disease duration (dd) and SARA severity (ss) (a disease duration 5 years, SARA 8.5; d disease duration 25 years, SARA 11). Panels b and e (daughter) and c and f (mother) are repeated studies with a 5-year interval between initial and subsequent examination and imaging (a, b 33/38 years; c, d 68/73 years). There is little change in the degree of cerebellar vermian atrophy over 5 years though progression of disease was evident in an increased SARA from 2 to 10.5 (b, e) and from 27 to 32.5 (c, f). The brain stem and pons remain intact in spite of a 48-year disease duration (f)
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Fig2: MR T1 midline sagittal and T2 axial sequences (inset) suggest progressive cerebellar atrophy with disease duration (dd) and SARA severity (ss) (a disease duration 5 years, SARA 8.5; d disease duration 25 years, SARA 11). Panels b and e (daughter) and c and f (mother) are repeated studies with a 5-year interval between initial and subsequent examination and imaging (a, b 33/38 years; c, d 68/73 years). There is little change in the degree of cerebellar vermian atrophy over 5 years though progression of disease was evident in an increased SARA from 2 to 10.5 (b, e) and from 27 to 32.5 (c, f). The brain stem and pons remain intact in spite of a 48-year disease duration (f)

Mentions: MR scans of the brain in four test subjects revealed isolated cerebellar atrophy (Fig. 2). In two individuals in which serial scans with a 5-year interval was available, no significant progression of atrophy could be appreciated in spite of clear progression of SARA disease severity (Fig. 2b, e, c, f). Sensory and motor nerve conduction studies were performed on three symptomatic individuals and revealed no pathological findings to indicate a peripheral neuropathy. One-hour sleep/awake EEG in a symptomatic individual (SARA 10.5) was normal without evidence for epileptic discharges, focality, slowing, or other pathologic patterns.Fig. 2


Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13.

Subramony SH, Advincula J, Perlman S, Rosales RL, Lee LV, Ashizawa T, Waters MF - Cerebellum (2013)

MR T1 midline sagittal and T2 axial sequences (inset) suggest progressive cerebellar atrophy with disease duration (dd) and SARA severity (ss) (a disease duration 5 years, SARA 8.5; d disease duration 25 years, SARA 11). Panels b and e (daughter) and c and f (mother) are repeated studies with a 5-year interval between initial and subsequent examination and imaging (a, b 33/38 years; c, d 68/73 years). There is little change in the degree of cerebellar vermian atrophy over 5 years though progression of disease was evident in an increased SARA from 2 to 10.5 (b, e) and from 27 to 32.5 (c, f). The brain stem and pons remain intact in spite of a 48-year disease duration (f)
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3824261&req=5

Fig2: MR T1 midline sagittal and T2 axial sequences (inset) suggest progressive cerebellar atrophy with disease duration (dd) and SARA severity (ss) (a disease duration 5 years, SARA 8.5; d disease duration 25 years, SARA 11). Panels b and e (daughter) and c and f (mother) are repeated studies with a 5-year interval between initial and subsequent examination and imaging (a, b 33/38 years; c, d 68/73 years). There is little change in the degree of cerebellar vermian atrophy over 5 years though progression of disease was evident in an increased SARA from 2 to 10.5 (b, e) and from 27 to 32.5 (c, f). The brain stem and pons remain intact in spite of a 48-year disease duration (f)
Mentions: MR scans of the brain in four test subjects revealed isolated cerebellar atrophy (Fig. 2). In two individuals in which serial scans with a 5-year interval was available, no significant progression of atrophy could be appreciated in spite of clear progression of SARA disease severity (Fig. 2b, e, c, f). Sensory and motor nerve conduction studies were performed on three symptomatic individuals and revealed no pathological findings to indicate a peripheral neuropathy. One-hour sleep/awake EEG in a symptomatic individual (SARA 10.5) was normal without evidence for epileptic discharges, focality, slowing, or other pathologic patterns.Fig. 2

Bottom Line: The p.Arg420His allelic form of spinocerebellar ataxia type 13 has been reported in a large Filipino kindred, as well as three European index cases, one with an affected offspring.Haplotype analysis has confirmed independent mutational events.However, a comprehensive phenotypic description has yet to be published on SCA13(p.Arg420His).

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology, University of Florida College of Medicine, Box 100296, Gainesville, FL, 32610, USA.

ABSTRACT
The p.Arg420His allelic form of spinocerebellar ataxia type 13 has been reported in a large Filipino kindred, as well as three European index cases, one with an affected offspring. Haplotype analysis has confirmed independent mutational events. All individuals share adult-onset, predominantly cerebellar signs and a slowly progressive course. However, a comprehensive phenotypic description has yet to be published on SCA13(p.Arg420His). In this study, we present the results of a detailed neurological clinical and diagnostic testing on 21 mutation-positive members of a four-generation Filipino family to further define this disease, aiding diagnosis and prognosis.

Show MeSH
Related in: MedlinePlus