Unusual Retinal Phenotypes in an SCA7 Family

Inaba, Hirofumi; Yabe, Ichiro; Yashima, Moemi; Soma, Hiroyuki; Nakamura, Yasushi; Houzen, Hideki; Sasaki, Hidenao

doi:10.2169/internalmedicine.48.2072

Cited by 7 publications

(3 citation statements)

References 11 publications

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“…In addition to this case report of HSP-like phenotype, and similarly to SCA1 and SCA3, spasticity is a clinical feature frequently observed in SCA7 patients [David et al, 1998;Durr, 2010;Giunti et al, 1999;Gu et al, 2000;Inaba et al, 2009;Johansson et al, 1998]. …”

Section: Spinocerebellar Ataxia Typementioning

confidence: 69%

Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias

Bettencourt

Quintáns

Ros³

et al. 2012

Hum. Mutat.

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ABSTRACT:Hereditary spastic paraplegias (HSPs) constitute a heterogeneous group of neurological disorders, characterized primarily by progressive spasticity and weakness of the lower limbs. HSPs are caused by mutations in multiple genes (at least 48 loci and 28 causative genes). The clinical spectrum of HSPs is wide and important differences have been reported between patients with distinct mutations in the same gene, or even between different family members bearing the same mutation. Many patients with HSP present clinical deficits related to the involvement of neuronal systems other than corticospinal tracts, namely, peripheral nerves, sensory, or cerebellar pathways. These cases may be difficult to differentiate from other neurological diseases (e.g., hereditary ataxias), also genetically and clinically heterogeneous. As an illustration of how overlapping this genotype-phenotype relationship is, and the difficulties that it brings upon the development of neurogenetic algorithms and databases, we review the main clinical and genetic features of HSPs, and summarize reports on cases of triplet-repeat spinocerebellar ataxias that can mimic HSP phenotypes. This complex scenario makes the necessity of high-quality, curated mutation databases even more urgent, in order to develop adequate diagnostic guidelines, correct interpretation of genetic testing, and appropriate genetic counseling.

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Section: Spinocerebellar Ataxia Typementioning

confidence: 69%

Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias

Bettencourt

Quintáns

Ros³

et al. 2012

Hum. Mutat.

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show abstract

“…29,32,33,34 Retinal degeneration may occur in the absence of pigmentary changes as well. 30 Macular and retinal dysfunction may be diagnosed prior to the appearance of funduscopic abnormalities via electroretinogram (ERG) 35 or ocular coherence tomography (OCT). 36 OCT shows thinning of the macula and retinal nerve fiber layer (RNFL).…”

Section: Ophthalmologic Features Of Sca7mentioning

confidence: 99%

Ophthalmologic features of the common spinocerebellar ataxias

Pula

Gómez

Kattah³

2010

Current Opinion in Ophthalmology

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“…8 There have been only six genetically confirmed and three suspected families of SCA7 in Japan thus far. The clinical features in half of those cases have been described in the literature [9][10][11][12][13] ; however, autopsy findings in Japanese SCA7 patients have not been reported. We performed a systematic clinical-neuropathological study in a Japanese autopsy case of genetically confirmed SCA7, providing evidence-based insights into the relationship between clinical symptoms and underlying pathomechanisms.…”

Section: Introductionmentioning

confidence: 99%

Primary degeneration of oculomotor, motor, and somatosensory systems and auditory and visual pathways in spinocerebellar ataxia type 7: A clinicopathological study in a Japanese autopsy case

et al. 2022

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Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by progressive cerebellar ataxia associated with retinal degeneration. The disease is rare in Japan, and this is the first full description of clinicopathological findings in a Japanese autopsy case of genetically confirmed SCA7 having 49 cytosine‐adenine‐guanine (CAG) trinucleotide repeats in the ataxin 7 gene. A 34‐year‐old Japanese man with no family history of clinically apparent neurodegenerative diseases presented with gait disturbance, gradually followed by truncal instability with progressive visual loss by the age of 42 years. He became wheelchair‐dependent by 51 years old, neurologically exhibiting cerebellar ataxia, slow eye movement, slurred and scanning speech, lower limb spasticity, hyperreflexia, action‐related slowly torsional dystonic movements in the trunk and limbs, diminished vibratory sensation in the lower limbs, auditory impairment, and macular degeneration. Brain magnetic resonance imaging revealed atrophy of the brainstem and cerebellum. He died of pneumonia at age 60 with a 26‐year clinical duration of disease. Postmortem neuropathological examination revealed pronounced atrophy of the spinal cord, brainstem, cerebellum, external globus pallidus (GP), and subthalamic nucleus, microscopically showing neuronal cell loss and fibrillary astrogliosis with polyglutamine‐immunoreactive neuronal nuclei and/or neuronal nuclear inclusions (NNIs). Degeneration was also accentuated in the oculomotor system, auditory and visual pathways, upper and lower motor neurons, and somatosensory system, including the spinal dorsal root ganglia. There was a weak negative correlation between the frequency of nuclear polyglutamine‐positive neurons and the extent of neuronal cell loss. Clinicopathological features in the present case suggest that neurological symptoms, such as oculomotor, auditory, visual, and sensory impairments, are attributable to degeneration in their respective projection systems affected by SCA7 pathomechanisms and that dystonic movement is related to more significant degeneration in the external than internal GP.

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Unusual Retinal Phenotypes in an SCA7 Family

Abstract: We

Cited by 7 publications

References 11 publications

Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias

Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias

Ophthalmologic features of the common spinocerebellar ataxias

Primary degeneration of oculomotor, motor, and somatosensory systems and auditory and visual pathways in spinocerebellar ataxia type 7: A clinicopathological study in a Japanese autopsy case

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