The neuronal ceroid lipofuscinoses (Batten disease):
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Oxford [u.a.]
Oxford Univ. Press
2011
|
| Ausgabe: | 2. ed. |
| Schriftenreihe: | Contemporary neurology series
78 |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis Klappentext |
| Beschreibung: | Includes bibliographical references and indexes |
| Beschreibung: | XXX, 444 S. zahlr. Ill., graph. Darst. |
| ISBN: | 9780199590018 019959001X 9051994818 4274902870 |
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| 250 | |a 2. ed. | ||
| 264 | 1 | |a Oxford [u.a.] |b Oxford Univ. Press |c 2011 | |
| 300 | |a XXX, 444 S. |b zahlr. Ill., graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
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| 490 | 1 | |a Contemporary neurology series |v 78 | |
| 500 | |a Includes bibliographical references and indexes | ||
| 650 | 4 | |a Neuronal ceroid-lipofuscinosis | |
| 650 | 4 | |a Neuronal Ceroid-Lipofuscinoses | |
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Datensatz im Suchindex
| _version_ | 1804145692037349376 |
|---|---|
| adam_text | Contents
LIST OF ABBREVIATIONS
xxi
LIST OF CONTRIBUTORS
xxiii
1.
THE NCLS: EVOLUTION OF THE CONCEPT
AND CLASSIFICATION
1
INTRODUCTION
1
LIPOFUSCIN AND CEROID
2
THE FIRST CLINICAL DESCRIPTION OF NCL
2
THE NCLS AS AMAUROTIC FAMILY IDIOCIES
3
THE CONCEPT OF THE NCLS EMERGES
4
BIOCHEMICAL ANALYSES OF THE STORAGE MATERIALS
5
THE PRIMARY GENETIC DEFECTS OF THE NCLS ARE IDENTIFIED
5
A NEW GENETIC CLASSIFICATION OF
TH E
NC LS
EVOLVES
6
A NEW CLINICAL NOMENCLATURE FOR THE NCLS
6
EVOLUTION OF IDEAS ON THE PATHOGENESIS OF THE NCLS
S
INTERNATIONAL COLLABORATION IN N(
IL
RESEARCH
S
BIOGRAPHIES
9
2.
NCL NOMENCLATURE AND CLASSIFICATION
20
INTRODUCTION
20
CURRENT NOMENCLATURE
2Ü
NOMENCLATURE AND CLASSIFICATION CONSIDERATIONS
22
3.
NCL DIAGNOSIS AND ALGORITHMS
24
INTRODUCTION
24
THE ALGORITHMS
24
ALGORITHM A
24
ALGORITHM
R
25
DIFFERENTIAL DIAGNOSES 2S
PROPOSED AXIAL DIAGNOSTIC SYSTEM OF CLASSIFICATION 2b
XIII
xiv Contents
4.
MORPHOLOGICAL DIAGNOSTIC AND PATHOLOGICAL
CONSIDERATIONS
35
INTRODUCTION
35
DEFINITIONS OF THE
ULTRASTRUCTURAL
PATTERNS FOUND IN NCL
35
NCL LIPOPIGMENTS IN EXTRACEREBRAL TISSUES
41
OTHER PATHOLOGICAL CONSIDERATIONS
47
PRENATAL DIAGNOSIS
48
5.
GENERAL PRINCIPLES OF MEDICAL MANAGEMENT
50
INTRODUCTION
50
EPILEPSY
51
NUTRITION AND FEEDING: ALL NCL TYPES
52
GUT AND CONSTIPATION: ALL NCL TYPES
52
ORAL SECRETIONS AND CHEST COMPLICATIONS: ALL NCL TYPES
52
MOBILITY AND SPATIAL AWARENESS: TEENAGERS AND YOUNG
ADULTS WITH CLN3 DISEASE
52
MOTOR DISORDER: INFANTILE AND LATE INFANTILE NCLS
53
COMMUNICATION: CLN3 DISEASE
53
EMOTIONAL AND MENTAL HEALTH: CLN3 DISEASE
53
SLEEP DISTURBANCE: ALL NCL TYPES
54
FAMILY CARE AND SUPPORT
54
6.
CLN1
55
INTRODUCTION
55
MOLECULAR GENETICS
55
PPT2
56
CELL BIOLOGY
56
CLINICAL DATA
60
MORPHOLOGY
62
DISEASE MECHANISM
70
CORRELATIONS
72
DIAGNOSIS
72
CLINICAL MANAGEMENT
72
EXPERIMENTAL THERAPY
73
Contents xv
7. CLN2 80
INTRODUCTION
80
MOLECULAR
GENETICS
80
CELL BIOLOGY
82
CLINICAL DATA
86
MORPHOLOGY
88
DISEASE MECHANISM
98
CORRELATIONS
98
DIAGNOSIS
101
CLINICAL MANAGEMENT
102
EXPERIMENTAL THERAPY
102
8.
CLN3
110
INTRODUCTION
110
MOLECULAR GENETICS
110
CELL BIOLOGY
112
CLINICAL DATA
117
MORPHOLOGY
120
DISEASE MECHANISM
126
CORRELATIONS
127
DIAGNOSIS
130
CLINICAL MANAGEMENT
130
EXPERIMENTAL THERAPY
133
9.
CLN5
140
INTRODUCTION
141
MOLECULAR GENETICS
141
CELL BIOLOGY
143
CLINICAL DATA
145
MORPHOLOGY
146
DISEASE MECHANISM
153
CORRELATIONS
154
DIAGNOSIS
155
xvi Contents
CLINICAL
MANAGEMENT 155
EXPERIMENTAL THERAPY
156
10.
CLN6
159
INTRODUCTION
159
MOLECULAR GENETICS
159
CELL BIOLOGY
160
CLINICAL DATA
163
MORPHOLOGY
165
DISEASE MECHANISM
172
CORRELATIONS
172
DIAGNOSIS
173
CLINICAL MANAGEMENT
173
EXPERIMENTAL THERAPY
174
11.
CLN7
176
INTRODUCTION
176
MOLECULAR GENETICS
176
CELL BIOLOGY
177
CLINICAL DATA
179
MORPHOLOGY
180
DISEASE MECHANISM
186
CORRELATIONS
186
DIAGNOSIS
186
CLINICAL MANAGEMENT
187
EXPERIMENTAL THERAPY
188
12.
CLN8
189
INTRODUCTION 1S9
MOLECULAR GENETICS
190
CELL BIOLOGY
192
CLINICAL DATA
193
MORPHOLOGY
194
Contents xvii
DISEASE MECHANISM
196
CORRELATIONS
198
DIAGNOSIS
198
CLINICAL MANAGEMENT
200
EXPERIMENTAL THERAPY
200
13.
CLN10
203
INTRODUCTION
203
MOLECULAR GENETICS
203
CELL BIOLOGY
205
CLINICAL DATA
206
MORPHOLOGY
206
DISEASE MECHANISM
209
CORRELATIONS
209
DIAGNOSIS
210
CLINICAL MANAGEMENT AND EXPERIMENTAL THERAPY
210
14.
GENETICALLY UNASSIGNED OR UNUSUAL NCLS
213
INTRODUCTION
213
ADULT ONSET NCL: CLN4
214
JUVENILE ONSET NCL: CLN9
229
OTHER NCL VARIANTS
231
15.
UNICELLULAR MODELS
237
INTRODUCTION
237
SACCHAROMYCES CEREVISIAE
237
CLN3
237
CLN10
240
CLN1
241
CLN3
241
CLN10
244
SCHIZOSACCHAROMYCES
ΡΟΜΒΕ
240
CONCLUDING REMARKS
244
xviii Contents
16. SIMPLE
ANIMAL
MODELS 247
INTRODUCTION
247
THE NEMATODE WORM CAENORHABDITIS
ELEGANS
247
THE FRUIT FLY
DROSOPHILA MELANOGASTER
252
CONCLUSIONS
258
17.
SMALL ANIMAL MODELS
262
INTRODUCTION
262
MOUSE MODELS
262
ZEBRAFISH MODELS
275
18.
LARGE ANIMAL MODELS
284
INTRODUCTION
284
LARGE ANIMAL MODELS WITH GENETIC ASSIGNMENT
285
LARGE ANIMAL MODELS WITHOUT GENETIC ASSIGNMENT
298
DOG MODELS
302
19.
EVOLUTIONARY CONSERVATION OF NCL PROTEINS
321
INTRODUCTION
321
CLN PROTEIN
HOMOLOGUES
321
20.
MUTATIONS IN NCL GENES
340
SUMMARY
340
21.
THERAPEUTIC STRATEGIES
343
INTRODUCTION
343
EXPERIMENTAL THERAPY
344
CELL-BASED THERAPIES
349
SMALL MOLECULE THERAPIES
350
DIETARY THERAPIES
353
ASSESSMENT OF THERAPY
353
CONCLUSIONS
354
Contents xix
22. OUTLOOK
INTO THE NEXT
DECADE
358
CURRENT STATE
358
NCL COLLECTIONS AND DATABASES
358
MOLECULAR GENETICS AND BIOLOGY
359
NCL CLASSIFICATION AND DIAGNOSIS
359
THERAPY
359
MORPHOLOGY
360
ANIMAL MODELS
360
FINAL STATEMENT
360
23.
APPENDIX
1:
NCL INCIDENCE AND PREVALENCE DATA
361
METHOD
361
RESULTS
361
CONCLUSIONS AND COMMENTS
361
24.
APPENDIX
2:
USEFUL INFORMATION
366
FAMILY SUPPORT GROUPS
366
ORGANIZATIONS RELEVANT TO NCL
368
NCL-SPECIFIC WEB SITES
368
NCL GENE AND MUTATION NOMENCLATURE
369
NCL SCIENTIFIC MEETINGS
369
SUMMARY TABLE
371
BIRLIOGRAPHY
372
AUTHOR INDEX
409
SUBJECT INDEX
432
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|
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| isbn | 9780199590018 019959001X 9051994818 4274902870 |
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| physical | XXX, 444 S. zahlr. Ill., graph. Darst. |
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| spelling | The neuronal ceroid lipofuscinoses (Batten disease) ed. by Sara E. Mole ... 2. ed. Oxford [u.a.] Oxford Univ. Press 2011 XXX, 444 S. zahlr. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Contemporary neurology series 78 Includes bibliographical references and indexes Neuronal ceroid-lipofuscinosis Neuronal Ceroid-Lipofuscinoses Myotonische Dystrophie (DE-588)4170976-7 gnd rswk-swf 1\p (DE-588)4143413-4 Aufsatzsammlung gnd-content Myotonische Dystrophie (DE-588)4170976-7 s DE-604 Mole, Sara E. Sonstige oth Contemporary neurology series 78 (DE-604)BV000898796 78 Digitalisierung UB Regensburg application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=022552292&sequence=000003&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis Digitalisierung UB Regensburg application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=022552292&sequence=000004&line_number=0002&func_code=DB_RECORDS&service_type=MEDIA Klappentext 1\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk |
| spellingShingle | The neuronal ceroid lipofuscinoses (Batten disease) Contemporary neurology series Neuronal ceroid-lipofuscinosis Neuronal Ceroid-Lipofuscinoses Myotonische Dystrophie (DE-588)4170976-7 gnd |
| subject_GND | (DE-588)4170976-7 (DE-588)4143413-4 |
| title | The neuronal ceroid lipofuscinoses (Batten disease) |
| title_auth | The neuronal ceroid lipofuscinoses (Batten disease) |
| title_exact_search | The neuronal ceroid lipofuscinoses (Batten disease) |
| title_full | The neuronal ceroid lipofuscinoses (Batten disease) ed. by Sara E. Mole ... |
| title_fullStr | The neuronal ceroid lipofuscinoses (Batten disease) ed. by Sara E. Mole ... |
| title_full_unstemmed | The neuronal ceroid lipofuscinoses (Batten disease) ed. by Sara E. Mole ... |
| title_short | The neuronal ceroid lipofuscinoses (Batten disease) |
| title_sort | the neuronal ceroid lipofuscinoses batten disease |
| topic | Neuronal ceroid-lipofuscinosis Neuronal Ceroid-Lipofuscinoses Myotonische Dystrophie (DE-588)4170976-7 gnd |
| topic_facet | Neuronal ceroid-lipofuscinosis Neuronal Ceroid-Lipofuscinoses Myotonische Dystrophie Aufsatzsammlung |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=022552292&sequence=000003&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=022552292&sequence=000004&line_number=0002&func_code=DB_RECORDS&service_type=MEDIA |
| volume_link | (DE-604)BV000898796 |
| work_keys_str_mv | AT molesarae theneuronalceroidlipofuscinosesbattendisease |