Case of Infantile Onset Spinocerebellar Ataxia Type 5
被引:32
作者:
Jacob, Francois-Dominique
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机构:
Childrens Hosp Boston, Dept Neurol, Boston, MA 02115 USA
Harvard Univ, Sch Med, Boston, MA USAChildrens Hosp Boston, Dept Neurol, Boston, MA 02115 USA
Jacob, Francois-Dominique
[1
,2
]
Ho, Eugenia S.
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机构:
Childrens Hosp Boston, Dept Neurol, Boston, MA 02115 USA
Harvard Univ, Sch Med, Boston, MA USAChildrens Hosp Boston, Dept Neurol, Boston, MA 02115 USA
Ho, Eugenia S.
[1
,2
]
Martinez-Ojeda, Mayra
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机构:
Harvard Univ, Sch Med, Boston, MA USA
Childrens Hosp Boston, Div Genet, Boston, MA 02115 USAChildrens Hosp Boston, Dept Neurol, Boston, MA 02115 USA
Martinez-Ojeda, Mayra
[2
,3
]
Darras, Basil T.
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机构:
Childrens Hosp Boston, Dept Neurol, Boston, MA 02115 USA
Harvard Univ, Sch Med, Boston, MA USAChildrens Hosp Boston, Dept Neurol, Boston, MA 02115 USA
Darras, Basil T.
[1
,2
]
Khwaja, Omar S.
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机构:
Childrens Hosp Boston, Dept Neurol, Boston, MA 02115 USA
Harvard Univ, Sch Med, Boston, MA USAChildrens Hosp Boston, Dept Neurol, Boston, MA 02115 USA
Khwaja, Omar S.
[1
,2
]
机构:
[1] Childrens Hosp Boston, Dept Neurol, Boston, MA 02115 USA
[2] Harvard Univ, Sch Med, Boston, MA USA
[3] Childrens Hosp Boston, Div Genet, Boston, MA 02115 USA
Dominant spinocerebellar ataxias are a rare clinically and genetically heterogeneous group of neurodegenerative disorders. They are characterized by progressive cerebellar ataxia resulting in unsteady gait, clumsiness, dysarthria, and swallowing difficulty. The onset of symptoms is usually in the third or fourth decade of life; however, more subtle clinical manifestations can start in early childhood. Spinocerebellar ataxia type 5, a dominant spinocerebellar ataxia associated with mutations involving beta-III spectrin (SPTBN2), has been described in 3 families. It typically consists of a slowly progressive spinocerebellar ataxia with onset in the third decade. The authors present the first case of infantile-onset spinocerebellar ataxia associated with a novel SPTBN2 mutation (transition C > T at nucleotide position 1438), the proband having a much more severe phenotype with global developmental delay, hypotonia, tremor, nystagmus, and facial myokymia.
机构:
Hop La Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, France
INSERM, U975, Paris, France
Univ Paris 06, Ctr Rech, Inst Cerveau & Moelle Epiniere, UMR S975, Paris, FranceHop La Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, France
机构:
Hop La Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, France
INSERM, U975, Paris, France
Univ Paris 06, Ctr Rech, Inst Cerveau & Moelle Epiniere, UMR S975, Paris, FranceHop La Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, France