Neuroradiology and clinical aspects of Usher syndrome

Marta L. Tamayo; Cesar Maldonado; Silvia L. Plaza; Gustavo M. Alvira; Gustavo E. Tamayo; Marta Zambrano; Jaime L. Frias; Jaime E. Bernai

doi:10.1111/j.1399-0004.1996.tb02366.x

Neuroradiology and clinical aspects of Usher syndrome

Marta L. Tamayo
, Cesar Maldonado
, Silvia L. Plaza
, Gustavo M. Alvira
, Gustavo E. Tamayo
, Marta Zambrano
, Jaime L. Frias
, Jaime E. Bernai

Institute of Human Genetics

Instituto Neurológico de Colombia
Universidad Javeriana
Fund. Oftalmológica Macional
Hospital Universitario San Ignacio
University of Tampa

Research output: Contribution to journal › Article › peer-review

22 Scopus citations

Abstract

We describe the neurological evaluation and MRI analysis of 30 patients, belonging to 16 families with Usher syndrome (US) type I and type II (US1 and US2). In addition to the classic visual and audiological abnormalities seen in these patients, we observed abnormal gait in 88.9% of US1 and in 66.7% of US2 patients and abnormal coordination in 33.4% of US1, and in 58.3% of US2. Borderline mental retardation, depression or bipolar affective disorder were observed in 16.7% of US1 and 33.3% of US2 patients. MRI analysis showed cerebellar abnormalities in 50% of US1 and 75% of US2 patients, but no clear correlation was observed between structural abnormalities and clinical findings. A pattern for the MRI classification of US patients is suggested.

Original language	English
Pages (from-to)	126-132
Number of pages	7
Journal	Clinical Genetics
Volume	50
Issue number	3
DOIs	https://doi.org/10.1111/j.1399-0004.1996.tb02366.x
State	Published - Sep 1996

Keywords

Blindness
CNS abnormalities
Deafness
MRI abnormalities
Retinitis pigmentosa
Usher syndrome
Usher syndrome type I
Usher syndrome type II

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10.1111/j.1399-0004.1996.tb02366.x

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title = "Neuroradiology and clinical aspects of Usher syndrome",

abstract = "We describe the neurological evaluation and MRI analysis of 30 patients, belonging to 16 families with Usher syndrome (US) type I and type II (US1 and US2). In addition to the classic visual and audiological abnormalities seen in these patients, we observed abnormal gait in 88.9\% of US1 and in 66.7\% of US2 patients and abnormal coordination in 33.4\% of US1, and in 58.3\% of US2. Borderline mental retardation, depression or bipolar affective disorder were observed in 16.7\% of US1 and 33.3\% of US2 patients. MRI analysis showed cerebellar abnormalities in 50\% of US1 and 75\% of US2 patients, but no clear correlation was observed between structural abnormalities and clinical findings. A pattern for the MRI classification of US patients is suggested.",

keywords = "Blindness, CNS abnormalities, Deafness, MRI abnormalities, Retinitis pigmentosa, Usher syndrome, Usher syndrome type I, Usher syndrome type II",

author = "Tamayo, \{Marta L.\} and Cesar Maldonado and Plaza, \{Silvia L.\} and Alvira, \{Gustavo M.\} and Tamayo, \{Gustavo E.\} and Marta Zambrano and Frias, \{Jaime L.\} and Bernai, \{Jaime E.\}",

year = "1996",

month = sep,

doi = "10.1111/j.1399-0004.1996.tb02366.x",

language = "English",

volume = "50",

pages = "126--132",

journal = "Clinical Genetics",

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T1 - Neuroradiology and clinical aspects of Usher syndrome

AU - Tamayo, Marta L.

AU - Maldonado, Cesar

AU - Plaza, Silvia L.

AU - Alvira, Gustavo M.

AU - Tamayo, Gustavo E.

AU - Zambrano, Marta

AU - Frias, Jaime L.

AU - Bernai, Jaime E.

PY - 1996/9

Y1 - 1996/9

N2 - We describe the neurological evaluation and MRI analysis of 30 patients, belonging to 16 families with Usher syndrome (US) type I and type II (US1 and US2). In addition to the classic visual and audiological abnormalities seen in these patients, we observed abnormal gait in 88.9% of US1 and in 66.7% of US2 patients and abnormal coordination in 33.4% of US1, and in 58.3% of US2. Borderline mental retardation, depression or bipolar affective disorder were observed in 16.7% of US1 and 33.3% of US2 patients. MRI analysis showed cerebellar abnormalities in 50% of US1 and 75% of US2 patients, but no clear correlation was observed between structural abnormalities and clinical findings. A pattern for the MRI classification of US patients is suggested.

AB - We describe the neurological evaluation and MRI analysis of 30 patients, belonging to 16 families with Usher syndrome (US) type I and type II (US1 and US2). In addition to the classic visual and audiological abnormalities seen in these patients, we observed abnormal gait in 88.9% of US1 and in 66.7% of US2 patients and abnormal coordination in 33.4% of US1, and in 58.3% of US2. Borderline mental retardation, depression or bipolar affective disorder were observed in 16.7% of US1 and 33.3% of US2 patients. MRI analysis showed cerebellar abnormalities in 50% of US1 and 75% of US2 patients, but no clear correlation was observed between structural abnormalities and clinical findings. A pattern for the MRI classification of US patients is suggested.

KW - Blindness

KW - CNS abnormalities

KW - Deafness

KW - MRI abnormalities

KW - Retinitis pigmentosa

KW - Usher syndrome

KW - Usher syndrome type I

KW - Usher syndrome type II

UR - https://www.scopus.com/pages/publications/0029912860

U2 - 10.1111/j.1399-0004.1996.tb02366.x

DO - 10.1111/j.1399-0004.1996.tb02366.x

M3 - Article

C2 - 8946110

AN - SCOPUS:0029912860

SN - 0009-9163

VL - 50

SP - 126

EP - 132

JO - Clinical Genetics

JF - Clinical Genetics

IS - 3

ER -

Neuroradiology and clinical aspects of Usher syndrome

Abstract

Keywords

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